Varaico: Literature-Extracted Genetic Variants

Gene:FOLR1
Variant:p.R128W
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FOLR1

NM_016729.3:p.R128W

Associated Papers

Treatable and preventable causes of inborn errors of metabolism: Cohort of neurotransmitter disorders in children from India.

Gowda VK et al.

Brain & Development, 2025

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

Girgis MY et al.

Journal of Epilepsy Research, 2024

Does breast carcinoma belong to the Lynch syndrome tumor spectrum? - Somatic mutational profiles vs. ovarian and colorectal carcinomas.

Porkka NK et al.

Oncotarget, 2020

32292574 (PubMed )
Supplement: oncotarget-11-1244-s005.xlsx › Sheet1

Treatable Neurodegenerative Disorder: Cerebral Folate Transport Deficiency--Two Children from Southern India.

Gowda VK et al.

Journal of Pediatric Neurosciences, 0

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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."