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Gain‐of‐Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome
Author(s) -
Morin Gilles,
Bruechle Nadina Ortiz,
Singh Amrathlal Rabbind,
Knopp Cordula,
Jedraszak Guillaume,
Elbracht Miriam,
BrémondGignac Dominique,
Hartmann Kathi,
Sevestre Henri,
Deutz Peter,
Hérent Didier,
Nürnberg Peter,
Roméo Bernard,
Konrad Kerstin,
MathieuDramard Michèle,
Oldenburg Johannes,
BourgesPetit Elisabeth,
Shen Yuequan,
Zerres Klaus,
OuadidAhidouch Halima,
Rochette Jacques
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.22722
Subject(s) - biology , mutation , function (biology) , genetics , computational biology , gene