Varaico: Literature-Extracted Genetic Variants

Gene:SMAD6
Variant:p.P275L
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SMAD6

NM_005585.5:p.P275L

Associated Papers

Implications of monogenic bicuspid aortic valve (BAV) forms among sporadic BAV patients.

Bruenger CMH et al.

European Journal of Human Genetics : Ejhg, 2025

40646242 (PubMed )
Supplement: 41431_2025_1909_MOESM2_ESM.xlsx › ST2

Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.

Cirulli ET et al.

Nature Communications, 2020

Germline MSH6 Mutation in a Patient With Two Independent Primary Glioblastomas.

Forsström LM et al.

Journal of Neuropathology and Experimental Neurology, 2017

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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."