Varaico: Literature-Extracted Genetic Variants

Gene:FLVCR1
Variant:p.L199P
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FLVCR1

NM_014053.4:p.L199P

Associated Papers

Novel mutations in FLVCR1 cause tremors, sensory neuropathy with retinitis pigmentosa.

Li Z et al.

Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2024

Mfsd7b facilitates choline transport and missense mutations affect choline transport function.

Ha HTT et al.

Cellular and Molecular Life Sciences : Cmls, 2023

Hereditary Ataxia: A Focus on Heme Metabolism and Fe-S Cluster Biogenesis.

Chiabrando D et al.

International Journal of Molecular Sciences, 2020

Posterior column ataxia with retinitis pigmentosa (PCARP) in an Iranian patient associated with the FLVCR1 gene.

Beigi F et al.

Ophthalmic Genetics, 2020

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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."