Varaico: Literature-Extracted Genetic Variants

Gene:CFHR5
Variant:p.P81L
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CFHR5

NM_030787.4:p.P81L

Associated Papers

Identification of a New Mutation p.P88L in Connexin 50 Associated with Dominant Congenital Cataract.

Jin A et al.

Frontiers in Cell and Developmental Biology, 2022

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

Genetic analysis of the complement pathway in C3 glomerulopathy.

Zhao W et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2018

[Analysis of variants in complement genes in Han Chinese children with atypical hemolytic uremic syndrome].

Yi CL et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2017

Comprehensive Analysis of Complement Genes in Patients with Atypical Hemolytic Uremic Syndrome.

Zhang T et al.

American Journal of Nephrology, 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."