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Disease‐causing Enhancer Variants: A Question of Penetrance
Author(s) -
Ottolenghi Sergio
Publication year - 2014
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.22406
Subject(s) - sox10 , enhancer , penetrance , biology , genetics , allele , haploinsufficiency , chromatin , point mutation , phenotype , mutation , gene , transcription factor