Varaico: Literature-Extracted Genetic Variants

Gene:BBS12
Variant:p.K408R
Back to variants list

BBS12

NM_152618.3:p.K408R

Associated Papers

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

Jespersgaard C et al.

Scientific Reports, 2019

30718709 (PubMed )
Supplement: 41598_2018_38007_MOESM2_ESM.xlsx › Ark1

Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes.

Hjortshøj TD et al.

Human Mutation, 2010

[Bardet-Biedl syndrome. Insight into this rare inherited syndrome can lead to new knowledge of molecular mechanisms].

Hjortshøj TD et al.

Ugeskrift for Laeger, 2005

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."