Varaico: Literature-Extracted Genetic Variants

Gene:FOLR1
Variant:p.C109*
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FOLR1

NM_016729.3:p.C109*

Associated Papers

The landscape of pediatric genetic white matter disorders at a tertiary referral hospital in Upper Egypt and the report of 31 novel variants.

Noureldeen MM et al.

Italian Journal of Pediatrics, 2025

Cerebral Folate Transport Deficiency in 2 Cases with Intractable Myoclonic Epilepsy.

Girgis MY et al.

Journal of Epilepsy Research, 2024

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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."