Varaico: Literature-Extracted Genetic Variants

Gene:CNGB1
Variant:p.F1051fs
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CNGB1

NM_001297.5:p.F1051fs

Associated Papers

Lysosomal Network Defects in Early-Onset Parkinson's Disease Patients Carrying Rare Variants in Lysosomal Hydrolytic Enzyme Genes.

Pascual A et al.

International Journal of Molecular Sciences, 2025

41096722 (PubMed )
Supplement: ijms-26-09454-s001.zip › ijms-3869459-supplementary.pdf

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Plos Genetics, 2025

40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39399040 (PubMed )
Supplement: media-1.xlsx › TableS2
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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."