Varaico: Literature-Extracted Genetic Variants

Gene:BBS10
Variant:p.Y559fs
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BBS10

NM_024685.4:p.Y559fs

Associated Papers

Fetal renal cystic disease and post-natal follow up-a single center experience.

Botero-Calderon L et al.

Frontiers in Pediatrics, 2023

[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."