Varaico: Literature-Extracted Genetic Variants

Gene:BMPR1A
Variant:p.C100Y
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BMPR1A

NM_004329.3:p.C100Y

Associated Papers

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

Papadopulos ME et al.

Hereditary Cancer in Clinical Practice, 2023

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

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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."