Varaico: Literature-Extracted Genetic Variants

Gene:SMAD9
Variant:p.V90M
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SMAD9

NM_001127217.3:p.V90M

Associated Papers

Two cases of genetic testing for familial adenomatous polyposis without a family history.

Makutani Y et al.

International Cancer Conference Journal, 2025

A Rare Mutation in SMAD9 Associated With High Bone Mass Identifies the SMAD-Dependent BMP Signaling Pathway as a Potential Anabolic Target for Osteoporosis.

Gregson CL et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2020

Identification of novel hereditary cancer genes by whole exome sequencing.

Sokolenko AP et al.

Cancer Letters, 2015

Exome Sequencing Reveals Germline SMAD9 Mutation That Reduces Phosphatase and Tensin Homolog Expression and Is Associated With Hamartomatous Polyposis and Gastrointestinal Ganglioneuromas.

Ngeow J et al.

Gastroenterology, 2015

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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."