Varaico: Literature-Extracted Genetic Variants

Gene:TTC21B
Variant:p.A127T
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TTC21B

NM_024753.5:p.A127T

Associated Papers

Genotype and phenotype analysis and transplantation strategy in children with kidney failure caused by NPHP.

Li J et al.

Pediatric Nephrology (berlin, Germany), 2023

Comprehensive genetic diagnosis of Japanese patients with severe proteinuria.

Nagano C et al.

Scientific Reports, 2020

Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy.

Kang HG et al.

Experimental & Molecular Medicine, 2016

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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."