Varaico: Literature-Extracted Genetic Variants

Gene:CFH
Variant:p.T1046T
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CFH

NM_000186.4:p.T1046T

Associated Papers

Analysis of Complement Factor H gene polymorphisms and their association with clinical manifestations ofleptospirosis.

Santiesteban-Lores LE et al.

Immunogenetics, 2024

Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report.

Xing D et al.

Bmc Ophthalmology, 2020

33302902 (PubMed )
Supplement: 12886_2020_1711_MOESM1_ESM.xlsx › RawData

Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Zhang X et al.

Bmc Neurology, 2018

30497413 (PubMed )
Supplement: 12883_2018_1199_MOESM5_ESM.xlsx › Supplementary_Table_5_The_index

High-Throughput Genetic Testing for Thrombotic Microangiopathies and C3 Glomerulopathies.

Bu F et al.

Journal of the American Society of Nephrology : Jasn, 2016

Mutation Screening of 1,237 Cancer Genes across Six Model Cell Lines of Basal-Like Breast Cancer.

Olsson E et al.

Plos One, 2015

26670335 (PubMed )
Supplement: pone.0144528.s005.xlsx › TableS3
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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."