Open access
Sep 2026
Targeted Analysis of Whole Exome Sequencing Data Identifies Biologically Plausible Causal Variants in Genetically Unresolved Oculocutaneous Albinism Patients From India
The findings broaden the spectrum of candidate pigmentation-associated variants in unresolved OCA cases and support possible oligogenic or modifier-driven mechanisms underlying phenotypic heterogeneity, however, these findings are hypothesis-generating and require functional validation.
T. Dutta, D. Dey, A. Saha et al.
· medRxiv · 0 citations