Varaico: Literature-Extracted Genetic Variants

Gene:TTC21B
Variant:p.Y562C
Back to variants list

TTC21B

NM_024753.5:p.Y562C

Associated Papers

Phenotypic and genotypic analysis of pediatric nephronophthisis patients with different levels of proteinuria.

Chen Q et al.

Renal Failure, 2025

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

Medullary Cystic Kidney Disease and Focal Segmental Glomerulosclerosis Caused by a Compound Heterozygous Mutation in TTC21B.

Hibino S et al.

Internal Medicine (tokyo, Japan), 2020

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."