Varaico: Literature-Extracted Genetic Variants

Gene:BMPR1A
Variant:p.M1L
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BMPR1A

NM_004329.3:p.M1L

Associated Papers

Familial juvenile polyposis syndrome with a de novo germline missense variant in BMPR1A gene: a case report.

Liu Q et al.

Bmc Medical Genetics, 2020

BMPR1A mutations in juvenile polyposis affect cellular localization.

Howe JR et al.

The Journal of Surgical Research, 2013

The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis.

Calva-Cerqueira D et al.

Clinical Genetics, 2009

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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."