Varaico: Literature-Extracted Genetic Variants

Gene:BBS2
Variant:p.I123_V124ins1
Back to variants list

BBS2

NM_031885.5:p.I123_V124ins1

Associated Papers

Refining genotype-phenotype correlation in Alström syndrome through study of primary human fibroblasts.

Chen JH et al.

Molecular Genetics & Genomic Medicine, 2017

28717663 (PubMed )
Supplement: MGG3-5-390-s003.xlsx › Variant_Table
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."