Varaico: Literature-Extracted Genetic Variants

Gene:SDCCAG8
Variant:p.D543_S544delFs
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SDCCAG8

NM_006642.5:p.D543_S544delFs

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

The genetic landscape of inherited eye disorders in 74 consecutive families from the United Arab Emirates.

Méjécase C et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020

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

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.

Otto EA et al.

Nature Genetics, 2010

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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."