Open AccessIdentification of Novel Mutation in EIF2AK3 Gene as a Causal Variant in a Family With Rare Disease
Author(s) -
Raziyeh Khalesi,
Masoud Garshasbi
Publication year - 2017
Publication title -
journal of medical cases
Language(s) - English
Resource type - Journals
eISSN - 1923-4163
pISSN - 1923-4155
DOI - 10.14740/jmc2597e
Subject(s) - frameshift mutation , missense mutation , genetics , exon , medicine , gene , mutation , biology