Varaico: Literature-Extracted Genetic Variants

Gene:SDCCAG8
Variant:p.R374*
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SDCCAG8

NM_006642.5:p.R374*

Associated Papers

Characterization of two novel knock-in mouse models of syndromic retinal ciliopathy carrying hypomorphic Sdccag8 mutations.

Ren ZL et al.

Zoological Research, 2022

Kidney failure in Bardet-Biedl syndrome.

Meyer JR et al.

Clinical Genetics, 2022

Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations.

Carrigan M et al.

Scientific Reports, 2016

Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly.

Schaefer E et al.

Molecular Syndromology, 2011

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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."