Varaico: Literature-Extracted Genetic Variants

Gene:RCBTB1
Variant:p.Y421delFs
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RCBTB1

NM_018191.4:p.Y421delFs

Associated Papers

Accelerating genetic diagnostics in retinitis pigmentosa: implementation of a semi-automated bespoke cohort analysis workflow for Hong Kong Genome Project.

Ying D et al.

Human Genetics, 2025

Variants in RCBTB1 are Associated with Autosomal Recessive Retinitis Pigmentosa but Not Autosomal Dominant FEVR.

Yang J et al.

Current Eye Research, 2021

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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."