Varaico: Literature-Extracted Genetic Variants

Gene:IFT81
Variant:p.L435del1
Back to variants list

IFT81

NM_014055.4:p.L435del1

Associated Papers

Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome.

Ashraf T et al.

American Journal of Medical Genetics. Part A, 2020

Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias.

Pettersson M et al.

Human Mutation, 2018

Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome.

Duran I et al.

Scientific Reports, 2016

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."