Varaico: Literature-Extracted Genetic Variants

Gene:BBS10
Variant:p.D515D
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BBS10

NM_024685.4:p.D515D

Associated Papers

Novel mutations of the USH2A gene cause Usher syndrome in five Chinese families.

Xing D et al.

Bmc Ophthalmology, 2022

35870892 (PubMed )
Supplement: 12886_2022_2532_MOESM4_ESM.xlsx › Sheet1

Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations.

Kurata K et al.

Japanese Journal of Ophthalmology, 2018

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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."