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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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1999 | 1 |
2010 | 1 |
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PubMed (OMIM) for id: 23325
6 results
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Page 1
Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement.
J Pathol. 2022 Jan;256(1):93-107. doi: 10.1002/path.5812. Epub 2021 Nov 18.
J Pathol. 2022.
PMID: 34599609
Genetic disruption of WASHC4 drives endo-lysosomal dysfunction and cognitive-movement impairments in mice and humans.
Courtland JL, Bradshaw TW, Waitt G, Soderblom EJ, Ho T, Rajab A, Vancini R, Kim IH, Soderling SH.
Courtland JL, et al.
Elife. 2021 Mar 22;10:e61590. doi: 10.7554/eLife.61590.
Elife. 2021.
PMID: 33749590
Free PMC article.
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Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature.
Assoum M, Bruel AL, Crenshaw ML, Delanne J, Wentzensen IM, McWalter K, Dent KM, Vitobello A, Kuentz P, Thevenon J, Duffourd Y, Thauvin-Robinet C, Faivre L.
Assoum M, et al.
Am J Med Genet A. 2020 Apr;182(4):792-797. doi: 10.1002/ajmg.a.61487. Epub 2020 Jan 18.
Am J Med Genet A. 2020.
PMID: 31953988
Review.
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Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP.
Ropers F, Derivery E, Hu H, Garshasbi M, Karbasiyan M, Herold M, Nürnberg G, Ullmann R, Gautreau A, Sperling K, Varon R, Rajab A.
Ropers F, et al.
Hum Mol Genet. 2011 Jul 1;20(13):2585-90. doi: 10.1093/hmg/ddr158. Epub 2011 Apr 15.
Hum Mol Genet. 2011.
PMID: 21498477
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WASH and WAVE actin regulators of the Wiskott-Aldrich syndrome protein (WASP) family are controlled by analogous structurally related complexes.
Jia D, Gomez TS, Metlagel Z, Umetani J, Otwinowski Z, Rosen MK, Billadeau DD.
Jia D, et al.
Proc Natl Acad Sci U S A. 2010 Jun 8;107(23):10442-7. doi: 10.1073/pnas.0913293107. Epub 2010 May 24.
Proc Natl Acad Sci U S A. 2010.
PMID: 20498093
Free PMC article.
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Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
Kikuno R, Nagase T, Ishikawa K, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O.
Kikuno R, et al.
DNA Res. 1999 Jun 30;6(3):197-205. doi: 10.1093/dnares/6.3.197.
DNA Res. 1999.
PMID: 10470851
Free article.
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