Varaico: Literature-Extracted Genetic Variants

Gene:TTC21B
Variant:p.L795P
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TTC21B

NM_024753.5:p.L795P

Associated Papers

Integrative modeling reveals the molecular architecture of the intraflagellar transport A (IFT-A) complex.

McCafferty CL et al.

Elife, 2022

Biallelic variants in TTC21B as a rare cause of early-onset arterial hypertension and tubuloglomerular kidney disease.

Olinger E et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022

A Compound Heterozygous Mutation in the Ciliary Gene TTC21B Causes Nephronophthisis Type 12.

Abo El Fotoh WMM et al.

Journal of Pediatric Genetics, 2020

Mutations in TTC21B cause different phenotypes in two childhood cases in China.

Zhang H et al.

Nephrology (carlton, Vic.), 2018

The nephronophthisis-related gene ift-139 is required for ciliogenesis in Caenorhabditis elegans.

Niwa S

Scientific Reports, 2016

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.

Boldt K et al.

Nature Communications, 2016

27173435 (PubMed )
Supplement: ncomms11491-s8.xlsx › IFT-B_variants

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.

Davis EE et al.

Nature Genetics, 2011

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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."