Varaico: Literature-Extracted Genetic Variants

Gene:SMAD3
Variant:p.V257delFs
Back to variants list

SMAD3

NM_005902.4:p.V257delFs

Associated Papers

Hypermobile Ehlers-Danlos Syndrome: Diagnostic Challenges and the Role of Genetic Testing.

Forghani I et al.

Genes, 2025

Exome sequencing and characterization of 49,960 individuals in the UK Biobank.

Van Hout CV et al.

Nature, 2020

33087929 (PubMed )
Supplement: 41586_2020_2853_MOESM11_ESM.xlsx › Sheet1
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."