Varaico: Literature-Extracted Genetic Variants

Gene:BMPR1A
Variant:p.S337*
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BMPR1A

NM_004329.3:p.S337*

Associated Papers

Genotype-phenotype correlation of BMPR1a disease causing variants in juvenile polyposis syndrome.

Papadopulos ME et al.

Hereditary Cancer in Clinical Practice, 2023

From developmental disorder to heritable cancer: it's all in the BMP/TGF-beta family.

Waite KA et al.

Nature Reviews. Genetics, 2003

Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers.

Friedl W et al.

Human Genetics, 2002

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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."