Varaico: Literature-Extracted Genetic Variants

Gene:BBS10
Variant:p.Y321*
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BBS10

NM_024685.4:p.Y321*

Associated Papers

Reproduction Function in Male Patients With Bardet Biedl Syndrome.

Koscinski I et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort.

Imhoff O et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2011

[Bardet-Biedl syndrome: a unique family for a major gene (BBS10)].

Dollfus H et al.

Medecine Sciences : M/s, 2006

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.

Stoetzel C et al.

Nature Genetics, 2006

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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."