Associated Papers
WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects.
Karam A et al.
International Journal of Molecular Sciences, 2023
Association of protein function-altering variants with cardiometabolic traits: the strong heart study.
Shan Y et al.
Scientific Reports, 2022
35665752 (PubMed )
Supplement: 41598_2022_12866_MOESM2_ESM.xlsx › TableS3
Exome Sequencing of 21 Bardet-Biedl Syndrome (BBS) Genes to Identify Obesity Variants in 6,851 American Indians.
Day SE et al.
Obesity (silver Spring, Md.), 2021
33616283 (PubMed )
Supplement: OBY-29-748-s001.xlsx › Table_S2
Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.
Wang F et al.
Human Genetics, 2014
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