Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA6
Variant:p.G985R
Back to variants list

PNPLA6

NM_001166114.2:p.G985R

Associated Papers

Novel PNPLA6 Variants: Hypogonadotropic Hypogonadism, Pituitary Hypoplasia, Anosmia, and Cerebellar Atrophy in Siblings.

Hussain MA et al.

Jcem Case Reports, 2026

Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.

Liu J et al.

Brain : a Journal of Neurology, 2024

Neuropathy target esterase activity predicts retinopathy among PNPLA6 disorders.

Liu J et al.

Biorxiv : the Preprint Server for Biology, 2023

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."