Varaico: Literature-Extracted Genetic Variants

Gene:FANCD2
Variant:p.L426_V427Splc
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FANCD2

NM_001018115.3:p.L426_V427Splc

Associated Papers

Epidermal second-hit mutation in MVK gene associated with linear porokeratosis.

Zhao A et al.

Genes & Diseases, 2025

39386107 (PubMed )
Supplement: mmc2.xlsx › standard

A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.

García-Cárdenas JM et al.

Journal of Medical Case Reports, 2020

32867815 (PubMed )
Supplement: 13256_2020_2451_MOESM1_ESM.xlsx › SPC34
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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."