Varaico: Literature-Extracted Genetic Variants

Gene:CNGB3
Variant:p.D261G
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CNGB3

NM_019098.5:p.D261G

Associated Papers

ConVarT: a search engine for matching human genetic variants with variants from non-human species.

Pir MS et al.

Nucleic Acids Research, 2022

34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S13.xls › human_pat_mouse_phe_orthovar_14

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

Aweidah H et al.

Molecular Vision, 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."