Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.L354Fs
Back to variants list

PAH

NM_000277.3:p.L354Fs

Associated Papers

Pediatric pulmonary arterial hypertension due to a novel homozygous GDF2 missense variant affecting BMP9 processing and activity.

Chomette L et al.

American Journal of Medical Genetics. Part A, 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."