Varaico: Literature-Extracted Genetic Variants

Gene:BBS7
Variant:p.A113D
Back to variants list

BBS7

NM_176824.3:p.A113D

Associated Papers

Phenotypic and genotypic analysis of 11 fetal cases with Bardet-Biedl syndrome.

Yu QX et al.

Prenatal Diagnosis, 2024

Review of the phenotypes and genotypes of Bardet-Biedl syndrome from China.

Xin-Yi Z et al.

Frontiers in Genetics, 2023

Early prenatal detection of Bardet-Biedl syndrome in a case with postaxial polydactyly and hyperechoic kidneys confirmed by next generation sequencing.

Li QY et al.

Congenital Anomalies, 2019

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."