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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CFD

Variant:p.Q44_H49ins2

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CFD

NM_001928.4:p.Q44_H49ins2

hg38:chr19:860690 G>GCAGCTGAACGGCGCGCAC

Associated Papers

Case Report: Cerebral folate deficiency caused by FOLR1 variant.

Wang Q et al.

Frontiers in Pediatrics, 2024

39328591 (PubMed )

Supplement: Table1.pdf

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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."