Varaico: Literature-Extracted Genetic Variants

Gene:CFH
Variant:p.A1057T
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CFH

NM_000186.4:p.A1057T

Associated Papers

Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort.

Lemberg K et al.

Kidney International Reports, 2025

41141495 (PubMed )
Supplement: mmc1.pdf

A missense variant in FGD6 confers increased risk of polypoidal choroidal vasculopathy.

Huang L et al.

Nature Genetics, 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."