Varaico: Literature-Extracted Genetic Variants

Gene:NADSYN1
Variant:p.S29Splc
Back to variants list

NADSYN1

NM_018161.5:p.S29Splc

Associated Papers

Further description of two patients with biallelic variants in NADSYN1 in association with cardiac and vertebral anomalies.

Kortbawi H et al.

American Journal of Medical Genetics. Part A, 2022

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."