Varaico: Literature-Extracted Genetic Variants

Gene:SMAD5
Variant:p.N361D
Back to variants list

SMAD5

NM_005903.7:p.N361D

Associated Papers

Haploinsufficient variants in SMAD5 are associated with isolated congenital heart disease.

Alankarage D et al.

Hgg Advances, 2025

Selective Disruption of Synaptic BMP Signaling by a Smad Mutation Adjacent to the Highly Conserved H2 Helix.

Nguyen TH et al.

Genetics, 2020

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."