Varaico: Literature-Extracted Genetic Variants

Gene:FLVCR2
Variant:p.R333C
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FLVCR2

NM_017791.3:p.R333C

Associated Papers

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

Cater RJ et al.

Nature, 2024

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

Cater RJ et al.

Biorxiv : the Preprint Server for Biology, 2023

Genetic etiologies associated with infantile hydrocephalus in a Chinese infantile cohort.

Mei HF et al.

World Journal of Pediatrics : Wjp, 2021

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

Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing.

Lalonde E 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."