Varaico: Literature-Extracted Genetic Variants

Gene:BBS4
Variant:p.D196G
Back to variants list

BBS4

NM_001252678.2:p.D196G

Associated Papers

Comprehensive clinical and genetic characterization of Bardet-Biedl Syndrome: insights from the largest Turkish cohort.

Demir Ş et al.

European Journal of Pediatrics, 2025

Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German Cohort.

Nasser F et al.

Genes, 2022

35886001 (PubMed )
Supplement: genes-13-01218-s001.zip › Supplementary_Tables_S1-S3.pdf

Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.

Van Schil K et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

28749477 (PubMed )
Supplement: gim201797x2.xlsx › Sheet1
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."