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A novel ALG14 missense variant in an alive child with myopathy, epilepsy, and progressive cerebral atrophy
Author(s) -
Palombo Flavia,
Piccolo Benedetta,
Saccani Elena,
Fiorini Claudio,
Capristo Mariantonietta,
Caporali Leonardo,
Pisani Francesco,
Carelli Valerio
Publication year - 2021
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.62153
Subject(s) - missense mutation , atrophy , epilepsy , myopathy , cerebral atrophy , medicine , neuroscience , pediatrics , pathology , psychology , genetics , mutation , biology , gene
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