Varaico: Literature-Extracted Genetic Variants

Gene:FLVCR2
Variant:p.N109K
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FLVCR2

NM_017791.3:p.N109K

Associated Papers

Structural and molecular basis of choline uptake into the brain by FLVCR2.

Cater RJ et al.

Nature, 2024

MFSD7c functions as a transporter of choline at the blood-brain barrier.

Nguyen XTA et al.

Cell Research, 2024

38302740 (PubMed )
Supplement: 41422_2023_923_MOESM15_ESM.xlsx › List_of_missense_mutations

Structural and molecular basis of choline uptake into the brain by FLVCR2.

Cater RJ et al.

Biorxiv : the Preprint Server for Biology, 2023

Expanding the clinical spectrum of Fowler syndrome: Three siblings with survival into adulthood and systematic review of the literature.

De Luca C et al.

Clinical Genetics, 2020

Variability of non-lethal Fowler syndrome phenotype associated with FLVCR2 variants.

Al-Murshedi F et al.

Clinical 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."