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Mutations of codon 2085 in the helicase domain of ATRX are recurrent and cause ATRX syndrome
Author(s) -
Lacoste C.,
Leheup B.,
Agouti I.,
Mowat D.,
Giuliano F.,
Badens C.
Publication year - 2014
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12319
Subject(s) - atrx , humanities , genetics , mutation , biology , philosophy , gene
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