Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHA7
Variant:p.D191N
Back to variants list

PLEKHA7

NM_001329630.2:p.D191N

Associated Papers

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.

Elliott AM et al.

Hgg Advances, 2022

New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder.

Szot JO et al.

Human Mutation, 2021

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."