VARIANT SPG43 PRO-52, VARIANTS NBIA4 PRO-52 AND GLY-55 DEL, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS SPG43 PRO-52, CHARACTERIZATION OF VARIANTS NBIA4 PRO-52; GLY-55 DEL AND ARG-58
pathogenic mutation in C19ORF12 gene (exon2 c.2327C>T p.P776L) was identified from the patients according to the American College of Medical Genetics and Genomics (ACMG) guideline
Brain iron and metabolic abnormalities in C19orf12 mutation carriers: A 7.0 tesla MRI study in mitochondrial membrane protein-associated neurodegeneration.
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