Varaico: Literature-Extracted Genetic Variants

Gene:IFT172
Variant:p.R1303*
Back to variants list

IFT172

NM_015662.3:p.R1303*

Associated Papers

Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy.

Spielmann N et al.

Nature Cardiovascular Research, 2022

39195995 (PubMed )
Supplement: 44161_2022_18_MOESM5_ESM.xlsx › VSD-Genes

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies.

McInerney-Leo AM et al.

Clinical Genetics, 2015

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.

Halbritter J et al.

American Journal of Human Genetics, 2013

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."