Title : Case Report: Identification of a De novo C19orf12 Variant in a Patient With Mitochondrial Membrane Protein-Associated Neurodegeneration.

Pub. Date : 2022

PMID : 35432442






1 Functional Relationships(s)
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1 Genetic analysis revealed a single complex de novo variant (c.336_338delinsCACA (p.Trp112CysfsTer40)) in the C19orf12 gene. trp112cysfster40 chromosome 19 open reading frame 12 Homo sapiens