Varaico: Literature-Extracted Genetic Variants

Gene:CFI
Variant:p.S268S
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CFI

NM_000204.5:p.S268S

Associated Papers

Molecular basis of complement factor I deficiency in Tunisian atypical haemolytic and uraemic syndrome patients.

Jlajla H et al.

Nephrology (carlton, Vic.), 2019

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

Genetic, molecular and functional analyses of complement factor I deficiency.

Nilsson SC et al.

European Journal of Immunology, 2009

Molecular characterization of Complement Factor I deficiency in two Spanish families.

Ponce-Castro IM et al.

Molecular Immunology, 2008

Molecular basis of complement factor I (CFI) polymorphism: one of two polymorphic suballeles responsible for CFI A is Japanese-specific.

Yuasa I et al.

Journal of Human Genetics, 2008

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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."