Varaico: Literature-Extracted Genetic Variants

Gene:RCBTB1
Variant:p.G70delFs
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RCBTB1

NM_018191.4:p.G70delFs

Associated Papers

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

Yang J et al.

Current Eye Research, 2021

Allele frequency analysis of variants reported to cause autosomal dominant inherited retinal diseases question the involvement of 19% of genes and 10% of reported pathogenic variants.

Hanany M et al.

Journal of Medical Genetics, 2019

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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."