Omim thoc2

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August undefined, 2024

WebOMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders Nucleic Acids Res . 2015 Jan;43(Database issue):D789-98. doi: 10.1093/nar/gku1205. WebTHOC2 Gene, Drug Resistance, Tissue Distribution, Mutation Distribution, Variants, THOC2 Genome Browser, THOC2 References ... OMIM 300395 Transcript ENST00000245838.12 Genome Browsers Ensembl, UCSC Copy Number CONAN NCBI Entrez Gene 57187 CCDS CCDS43988.1 UniProt Q8NI27 Pfam Q8NI27 Atlas Genetic Oncology n/a

THOC2 THO complex subunit 2 - NIH Genetic Testing Registry …

WebACMG2'nin insidental olarak saptanması durumunda raporlanmasını önerdiği, OMIM veri tabanında “Scapuloperoneal syndrome, neurogenic, Kaeser type AD”, “Cardiomyopathy, dilated, 1I AD” ve “Myopathy, myofibrillar, 1 AD/AR” fenotipleri ile ilişkili DES (NM_001927.4) geninde heterozigot olarak saptanan WebAll lanes : Anti-THOC2/Tho2 antibody (ab129485) at 0.04 µg/ml Lane 1 : HeLa whole cell lysate at 50 µg Lane 2 : HeLa whole cell lysate at 15 µg Lane 3 : 293T whole cell lysate … pine creek canyon climbing

THOC2 siRNA (h), shRNA and Lentiviral Particle Gene Silencers

WebTHOC2:220509: Graphical displays and utilities; ... THOC2: OMIM - Gene: 300395: OMIM - Diseases: MRX12 (MRX35) HGMD: THOC2: GeneCards: THOC2: GeneTests: THOC2: … WebView unique variants in gene THOC2; View all variants in gene THOC2; Full data view for gene THOC2; Create a new data submission WebIn affected members of 4 unrelated families with X-linked intellectual developmental disorder-12 (XLID12; 300957), Kumar et al. (2015) identified 4 different hemizygous missense mutations in the THOC2 gene (300395.0001-300395.0004).The mutations, which were found by X-chromosome exome sequencing, segregated with the disorder in the … pine creek canyon domestic water

THOC2 siRNA (m): sc-76655 - datasheets.scbt.com

OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an …

Web14 Apr 2024, Gel status: 2 Created, Added New Source, Set mode of inheritance, Set Phenotypes Arina Puzriakova (Genomics England Curator) gene: ATP5O was added gene: ATP5O was add WebRefSeq (mRNA) NM_001081550 NM_020449. NM_001033422 pine creek canyon lavenderWebQuick facts: THOC2, Identifikatori, Aliasi, Vanjski ID-jev... THOC2; Identifikatori; Aliasi: THOC2: Vanjski ID-jevi: OMIM: 300395 MGI: 2442413 HomoloGene: 69669 ... pine creek canyon hiking near bishop

"WebTHOC2 (HGNC:19073) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar HGNC Name THO complex 2 Gene type protein-coding gene Locus type gene with protein product Previous symbols CXorf3, MRX12, MRX35 Alias symbols THO2, dJ506G2.1 GenCC Classifications Strong 2 Supportive 1 Moderate 1 (Read more about … " - Omim thoc2

Omim thoc2

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WebTHOC2. Mental retardation, X‑linked 12. 300957. Liste enthält derzeit bekannte Beispiele und ist wahrscheinlich nicht vollständig. Tab. 3. ... OMIM # 300166) oder den CASK-assoziierten Entwicklungsstörungen (OMIM # 300422, 300749, 300422). Webthoc2 ID ZDB-GENE-030616-54 Name THO complex 2 Symbol thoc2 Nomenclature History Previous Names. Tho2 ; fb73e08; fd21d11; si:bz1o18.2; wu:fb73e08; …

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Web29. mar 2024. · Knockdown THOC2 suppresses the proliferation and invasion of melanoma. Zhou X, Liu X, Zhang G, Zhang Q, Chen H, Wang Y, Fang F, Sun JZhou X, et al. Bioengineered, 2024 Dec. PMID 31680623; Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery. Web13. avg 2024. · THOC6 intellectual disability syndrome is associated with moderate-to-severe developmental delay or intellectual disability; nonspecific dysmorphic facial features (tall forehead, deep-set eyes, …

Web14 Apr 2024, Gel status: 2 Created, Added New Source, Set mode of inheritance, Set Phenotypes Arina Puzriakova (Genomics England Curator) gene: ATP5O was added … Web10060.0. 2182.0. 111.0. 84059.0. 23394.0. 9049.0. 210.0. 8659.0. 7915.0. 199857.0. 283.0. 311.0. 164.0. 10297.0. 367.0. 196528.0. 22901.0. 421.0. 55870.0. 478.0. 546. ...

WebTHOC2. Mental retardation, X‑linked 12. 300957. Liste enthält derzeit bekannte Beispiele und ist wahrscheinlich nicht vollständig. Tab. 3. ... OMIM # 300166) oder den CASK … WebLa subunidad 2 del complejo THO es una proteína que en los seres humanos está codificada por el gen THOC2 . [5] [6] THOC2. La subunidad 2 del complejo THO es una …

WebA de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar …

Webthoc2 ID ZDB-GENE-030616-54 Name THO complex 2 Symbol thoc2 Nomenclature History Previous Names. Tho2 ; fb73e08; fd21d11; si:bz1o18.2; wu:fb73e08; wu:fd21d11; Type ... OMIM Term OMIM Phenotype ID; X-linked intellectual disability-short stature-overweight syndrome: Alliance: Intellectual developmental disorder, X-linked 12: top motorcycles for tall ridersWebOMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily. The full-text, referenced... pine creek canyon lavender farm azWebDescription: Homo sapiens THO complex 2 (THOC2), mRNA. (from RefSeq NM_001081550) RefSeq Summary (NM_001081550): The TREX multiprotein complex … top motorcycles of 2023WebIn mid-2013, English-language newspapers reported that this fetish had allegedly become popular in Japan, where it was referred to as Gankyū name purei (眼球舐めプレイ, … top motorcycles of 2021http://genome.cse.ucsc.edu/cgi-bin/hgGene?org=Human&hgg_chrom=none&hgg_type=knownGene&hgg_gene=uc004etu.4 pine creek canyon trail nevadaWebBioGRID Interaction 1447751 Between THOC2 And TERF1. Toggle navigation. Bio GRID 4.4 top motoresPodjedinica THO-kompleksa jest protein koji je kod ljudi kodiran genom THOC2. THO2 je dio kompleksa TREX (transkripcija /eksport), koji uključuje TEX1 (MIM 606929), HPR1 (MIM 606930), ALY (MIM 604171) i UAP56 (MIM 606390) (prema OMIM-u). pine creek canyon zion