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., et al. (2021). A novel ALG14 missense variant in an alive child with myopathy, epilepsy, and progressive cerebral atrophy. AMERICAN JOURNAL OF MEDICAL GENETICS. PART A, 185(6), 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
A novel ALG14 missense variant in an alive child with myopathy, epilepsy, and progressive cerebral atrophyFile in questo prodotto:
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