Varaico: Literature-Extracted Genetic Variants

Gene:BMPR1A
Variant:p.L222insFs
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BMPR1A

NM_004329.3:p.L222insFs

Associated Papers

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

Papadopulos ME et al.

Hereditary Cancer in Clinical Practice, 2023

Sporadic and Hereditary Breast Cancer Genetics.

Zehr KR

Radiologic Technology, 2018

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

Waite KA et al.

Nature Reviews. Genetics, 2003

Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes.

Zhou XP et al.

American Journal of Human Genetics, 2001

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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."