Varaico: Literature-Extracted Genetic Variants

Gene:BBS1
Variant:p.V303A
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BBS1

NM_024649.5:p.V303A

Associated Papers

PKD1 mutation may epistatically ameliorate nephronophthisis progression in patients with NPHP1 deletion.

Watanabe S et al.

Clinical Case Reports, 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."