Varaico: Literature-Extracted Genetic Variants

Gene:BBS10
Variant:p.S3_M5Fs
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BBS10

NM_024685.4:p.S3_M5Fs

Associated Papers

Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).

Rivera-Munoz EA et al.

European Journal of Human Genetics : Ejhg, 2025

40913078 (PubMed )
Supplement: NIHMS2114636-supplement-Supplemental_Table_S1.xlsx › Table_S1

Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing.

Zenteno JC et al.

Molecular Genetics & Genomic Medicine, 2020

Retinal Diseases Caused by Mutations in Genes Not Specifically Associated with the Clinical Diagnosis.

Wang X et al.

Plos One, 2016

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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."