Varaico: Literature-Extracted Genetic Variants

Gene:CFHR1
Variant:p.H264Splc
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CFHR1

NM_002113.3:p.H264Splc

Associated Papers

Polymorphic pseudogenes in the human genome - a comprehensive assessment.

Lopes-Marques M et al.

Human Genetics, 2024

39488654 (PubMed )
Supplement: 439_2024_2715_MOESM7_ESM.xlsx › Additional_table_1

Rare genetic variants involved in multisystem inflammatory syndrome in children: a multicenter Brazilian cohort study.

Reis BCSD et al.

Frontiers in Cellular and Infection Microbiology, 2023

Diagnostic utility of genetic testing in patients undergoing renal biopsy.

Benson KA et al.

Cold Spring Harbor Molecular Case Studies, 2020

Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen.

Taylor RL et al.

Ophthalmology, 2019

30905644 (PubMed )
Supplement: mmc7.pdf

Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.

Saleheen D et al.

Nature, 2017

28406212 (PubMed )
Supplement: NIHMS857566-supplement-Suppl__Table_1.xlsx › Supplementary_Table_1
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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."