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Mutations of codon 2085 in the helicase domain of ATRX are recurrent and cause ATRX syndrome.

Authors: Lacoste, C  Leheup, B  Agouti, I  Mowat, D  Giuliano, F  Badens, C 
Citation: Lacoste C, etal., Clin Genet. 2013 Dec 1. doi: 10.1111/cge.12319.
Pubmed: (View Article at PubMed) PMID:24289169
DOI: Full-text: DOI:10.1111/cge.12319



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RGD Object Information
RGD ID: 9586030
Created: 2014-09-25
Species: All species
Last Modified: 2014-09-25
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.