Varaico: Literature-Extracted Genetic Variants

Gene:BMP7
Variant:p.L198F
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BMP7

NM_001719.3:p.L198F

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

High-throughput custom capture sequencing identifies novel mutations in coloboma-associated genes: Mutation in DNA-binding domain of retinoic acid receptor beta affects nuclear localization causing ocular coloboma.

Kalaskar VK et al.

Human Mutation, 2020

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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."