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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BMPR1A

Variant:p.Y189Fs

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BMPR1A

NM_004329.3:p.Y189Fs

hg38:chr10:86912274 T>GCGCG

Associated Papers

Bmpr1aa modulates the severity of the skeletal phenotype in an fkbp10-deficient Bruck syndrome zebrafish model.

Jarayseh T et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2024

39566080 (PubMed )

Supplement: supplementary_tables_s1-s9_zjae185.xlsx › S8

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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."