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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CFHR1

Variant:p.L243_E244delFs

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CFHR1

NM_002113.3:p.L243_E244delFs

hg38:chr1:196830619 CTTGA>C

Associated Papers

Clinical features and outcomes of patients with diacylglycerol kinase epsilon nephropathy: a nationwide experience.

Khandelwal P et al.

Pediatric Nephrology (berlin, Germany), 2023

36988693 (PubMed )

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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."