Varaico: Literature-Extracted Genetic Variants

Gene:BBS7
Variant:p.R96_G97delFs
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BBS7

NM_176824.3:p.R96_G97delFs

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

Characteristics of genotype and phenotype in Chinese patients with Bardet-Biedl syndrome.

Tao T et al.

International Ophthalmology, 2020

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

Application of Whole Exome and Targeted Panel Sequencing in the Clinical Molecular Diagnosis of 319 Chinese Families with Inherited Retinal Dystrophy and Comparison Study.

Wang L et al.

Genes, 2018

30029497 (PubMed )
Supplement: genes-09-00360-s001.zip › TableS1.xlsx › Sheet1
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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."