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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BMPR1B

Variant:p.F242L

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BMPR1B

NM_001203.3:p.F242L

hg38:chr4:95130000 T>C

Associated Papers

BMPR1A and BMPR1B Missense Mutations Cause Primary Ovarian Insufficiency.

Renault L et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

31769494 (PubMed )

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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."