Varaico: Literature-Extracted Genetic Variants

Gene:BBS2
Variant:p.D104G
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BBS2

NM_031885.5:p.D104G

Associated Papers

A systematic review of hereditary neurological disorders diagnosed by whole exome sequencing in Pakistani population: updates from 2014 to November 2024.

Ahmad R et al.

Neurogenetics, 2025

Hypomorphic variants in inherited retinal and ocular diseases: A review of the literature with clinical cases.

Thuma TBT et al.

Survey of Ophthalmology, 0

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