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PubMed (OMIM) for id: 9640
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WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease.
Hum Mutat. 2015 Nov;36(11):1021-8. doi: 10.1002/humu.22828. Epub 2015 Aug 6.
Hum Mutat. 2015.
PMID: 26123727
Free PMC article.
CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592.
Nicolas E, Poitelon Y, Chouery E, Salem N, Levy N, Mégarbané A, Delague V.
Nicolas E, et al.
Eur J Hum Genet. 2010 Oct;18(10):1107-13. doi: 10.1038/ejhg.2010.82. Epub 2010 Jun 9.
Eur J Hum Genet. 2010.
PMID: 20531441
Free PMC article.
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A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large consanguineous Lebanese Druze Family.
Delague V, Bareil C, Bouvagnet P, Salem N, Chouery E, Loiselet J, Mégarbané A, Claustres M.
Delague V, et al.
Neurogenetics. 2002 Mar;4(1):23-7. doi: 10.1007/s10048-001-0127-z.
Neurogenetics. 2002.
PMID: 12030328
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Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain.
Nagase T, Seki N, Ishikawa K, Ohira M, Kawarabayasi Y, Ohara O, Tanaka A, Kotani H, Miyajima N, Nomura N.
Nagase T, et al.
DNA Res. 1996 Oct 31;3(5):321-9, 341-54. doi: 10.1093/dnares/3.5.321.
DNA Res. 1996.
PMID: 9039502
Free article.
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