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SMG9 ‐deficiency syndrome caused by a homozygous missense variant: Expanding the genotypic and phenotypic spectrum of this developmental disorder
Author(s) -
Lemire Gabrielle,
MacDonald Stella K.,
Boycott Kym M.
Publication year - 2020
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61616
Subject(s) - missense mutation , genotype , phenotype , genetics , genotype phenotype distinction , biology , psychology , gene