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A novel recurrent LIS1 splice site mutation in classic lissencephaly
Author(s) -
Philbert Marion,
Maillard Camille,
Cavallin Mara,
Goldenberg Alice,
Masson Cecile,
Boddaert Nathalie,
El Morjani Adrienne,
Steffann Julie,
Chelly Jamel,
Gerard Xavier,
BahiBuisson Nadia
Publication year - 2017
Publication title -
american journal of medical genetics part a
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.38041
Subject(s) - lissencephaly , web site , mutation , splice site mutation , splice , computer science , computational biology , world wide web , the internet , exon , biology , genetics , alternative splicing , gene