Varaico: Literature-Extracted Genetic Variants

Gene:FLVCR2
Variant:p.T430A
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FLVCR2

NM_017791.3:p.T430A

Associated Papers

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

Nguyen XTA et al.

Cell Research, 2024

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

Cater RJ et al.

Biorxiv : the Preprint Server for Biology, 2023

Publicly funded exome sequencing for outpatients with neurodevelopmental disorders demonstrates a high rate of unexpected findings impacting medical management.

Nakhleh Francis Y et al.

Genetics in Medicine Open, 2023

39669259 (PubMed )
Supplement: mmc1.xlsx › ______1

Deficiency of MFSD7c results in microcephaly-associated vasculopathy in Fowler syndrome.

Kalailingam P et al.

The Journal of Clinical Investigation, 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."