Varaico: Literature-Extracted Genetic Variants

Gene:BMP4
Variant:p.F57insFs
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BMP4

NM_001347913.2:p.F57insFs

Associated Papers

Bone morphogenetic protein 4 (BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasia.

Nixon TRW et al.

European Journal of Human Genetics : Ejhg, 2019

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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."