Varaico: Literature-Extracted Genetic Variants

Gene:ALDH7A1
Variant:p.R122P
Back to variants list

ALDH7A1

NM_001182.5:p.R122P

Associated Papers

Analysis of clinical features and genetic variants in Chinese children with pyridoxine-dependent epilepsy: a case series study.

Yu X et al.

Frontiers in Neurology, 2025

A Retrospective Review of Reclassification of Variants of Uncertain Significance in a Pediatric Epilepsy Cohort Undergoing Genetic Panel Testing.

Chourasia N et al.

Pediatric Neurology, 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."