A novel ALG14 missense variant in an alive child with myopathy, epilepsy, and progressive cerebral atrophy
A novel ALG14 missense variant in an alive child with myopathy, epilepsy, and progressive cerebral atrophy / Palombo F.; Piccolo B.; Saccani E.; Fiorini C.; Capristo M.; Caporali L.; Pisani F.; Carelli V.. - In: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. - ISSN 1552-4825. - ELETTRONICO. - 185:6(2021), pp. 1918-1921. [10.1002/ajmg.a.62153]
A novel ALG14 missense variant in an alive child with myopathy, epilepsy, and progressive cerebral atrophy
Piccolo B.;Fiorini C.;Capristo M.;Caporali L.;Carelli V.
2021
Abstract
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