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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CNGB3

Variant:p.P273delFs

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CNGB3

NM_019098.5:p.P273delFs

hg38:chr8:86666957 TG>T

Associated Papers

A deep intronic substitution in CNGB3 is one of the major causes of achromatopsia among Jewish patients.

Aweidah H et al.

Molecular Vision, 2021

34703197 (PubMed )

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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."