Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA8
Variant:p.V520D
Back to variants list

PNPLA8

NM_001256007.3:p.V520D

Associated Papers

Novel PNPLA8 variants associated with primary ovarian insufficiency, tremors, cerebellar ataxia and limb weakness: a case report and literature review.

Chen B et al.

Journal of Neurology, 2024

Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia.

Nakamura Y et al.

Brain : a Journal of Neurology, 2024

Delineating the phenotype of PNPLA8-related mitochondriopathies.

Abdel-Hamid MS et al.

Clinical Genetics, 2024

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."