Varaico: Literature-Extracted Genetic Variants

Gene:BBS10
Variant:p.L301V
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BBS10

NM_024685.4:p.L301V

Associated Papers

Computational and Structural Analysis to Assess the Pathogenicity of Bardet-Biedl Syndrome Related Missense Variants Identified in Bardet-Biedl Syndrome 10 Gene (BBS10).

Gupta N et al.

Acs Omega, 2022

36312387 (PubMed )
Supplement: ao2c04522_si_001.pdf

Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German Cohort.

Nasser F et al.

Genes, 2022

35886001 (PubMed )
Supplement: genes-13-01218-s001.zip › Supplementary_Tables_S1-S3.pdf
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