Varaico: Literature-Extracted Genetic Variants

Gene:BBS2
Variant:p.I289V
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BBS2

NM_031885.5:p.I289V

Associated Papers

Contribution of common and rare variants to Asian neovascular age-related macular degeneration subtypes.

Fan Q et al.

Nature Communications, 2023

37696869 (PubMed )
Supplement: 41467_2023_41256_MOESM3_ESM.xlsx › Supplementary_Data_9

Identifying gene mutations of Chinese patients with polycystic kidney disease through targeted next-generation sequencing technology.

Wang T et al.

Molecular Genetics & Genomic Medicine, 2019

Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.

Watson CM et al.

Plos One, 2014

25133751 (PubMed )
Supplement: pone.0104281.s001.pdf
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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."