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Missense mutations in SLC25A1 are associated with congenital myasthenic syndrome type 23
Author(s) -
AlFutaisi Amna,
Ahmad Faraz,
AlKasbi Ghalia,
AlThihli Khalid,
Koul Roshan,
AlMaawali Almundher
Publication year - 2020
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13678
Subject(s) - missense mutation , congenital myasthenic syndrome , genetics , medicine , mutation , pediatrics , biology , gene
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