Varaico: Literature-Extracted Genetic Variants

Gene:CNGB1
Variant:p.V535A
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CNGB1

NM_001297.5:p.V535A

Associated Papers

Harnessing the paradoxical phenotypes of APOE ɛ2 and APOE ɛ4 to identify genetic modifiers in Alzheimer's disease.

Kim YW et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2021

33576571 (PubMed )
Supplement: ALZ-17-831-s002.xlsx › Table_S4

Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa.

Bareil C et al.

Human Genetics, 2001

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