Varaico: Literature-Extracted Genetic Variants

Gene:FLVCR2
Variant:p.Y134*
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FLVCR2

NM_017791.3:p.Y134*

Associated Papers

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

High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy.

Thomas S et al.

Human Mutation, 2010

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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."