Varaico: Literature-Extracted Genetic Variants

Gene:C19orf12
Variant:p.W64insFs
Back to variants list

C19orf12

NM_031448.6:p.W64insFs

Associated Papers

Phenotype and natural history of mitochondrial membrane protein-associated neurodegeneration.

Iankova V et al.

Brain : a Journal of Neurology, 2024

37831662 (PubMed )
Supplement: awad357_supplementary_data.pdf

Neurodegeneration with Brain Iron Accumulation and a Brief Report of the Disease in Iran.

Hajati R et al.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2022

PANK2 and C19orf12 mutations are common causes of neurodegeneration with brain iron accumulation.

Dezfouli MA et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2013

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."