Varaico: Literature-Extracted Genetic Variants

Gene:BMP7
Variant:p.L198P
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BMP7

NM_001719.3:p.L198P

Associated Papers

The Developmental Landscape of Children With Uveal Coloboma and Its Relationship With Clinical Phenotype and Genetics.

Brooks BP et al.

American Journal of Ophthalmology, 2026

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."