Varaico: Literature-Extracted Genetic Variants

Gene:CNGB1
Variant:p.P544L
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CNGB1

NM_001297.5:p.P544L

Associated Papers

Novel Insights into the Enigmatic Genetics of Male Breast Cancer in China.

Lang GT et al.

Pathophysiology : the Official Journal of the International Society for Pathophysiology, 2026

41718387 (PubMed )
Supplement: pathophysiology-33-00009-s001.zip › Supplementary_Table_2.pdf

Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.

Colombo L et al.

Investigative Ophthalmology & Visual Science, 2021

33576794 (PubMed )
Supplement: iovs-62-2-13_s001.xlsx › Table_S4_AR

Multimodal imaging and genetic characteristics of Chinese patients with USH2A-associated nonsyndromic retinitis pigmentosa.

Chen C et al.

Molecular Genetics & Genomic Medicine, 2020

32893482 (PubMed )
Supplement: MGG3-8-e1479-s001.docx
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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."