Varaico: Literature-Extracted Genetic Variants

Gene:IFT172
Variant:p.R1134L
Back to variants list

IFT172

NM_015662.3:p.R1134L

Associated Papers

Investigation of Genetic Causes in Patients with Congenital Heart Disease in Qatar: Findings from the Sidra Cardiac Registry.

Okashah S et al.

Genes, 2022

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

KIAA0586 is Mutated in Joubert Syndrome.

Bachmann-Gagescu R et al.

Human Mutation, 2015

Integrated analysis of germline and somatic variants in ovarian cancer.

Kanchi KL et al.

Nature Communications, 2014

24448499 (PubMed )
Supplement: NIHMS551112-supplement-9.xlsx › S_Data_8
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."