Varaico: Literature-Extracted Genetic Variants

Gene:BMP7
Variant:p.A171delFs
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BMP7

NM_001719.3:p.A171delFs

Associated Papers

Functional Characterization of Two New Variants in the Bone Morphogenetic Protein 7 Prodomain in Two Pairs of Monozygotic Twins With Hypospadias.

Bouty A et al.

Journal of the Endocrine Society, 2019

Bone morphogenetic protein 7 (BMP7) mutations are associated with variable ocular, brain, ear, palate, and skeletal anomalies.

Wyatt AW et al.

Human Mutation, 2010

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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."