Varaico: Literature-Extracted Genetic Variants

Gene:BBS4
Variant:p.E61K
Back to variants list

BBS4

NM_033028.5:p.E61K

Associated Papers

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

BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.

Deveault C et al.

Human Mutation, 2011

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."