Varaico: Literature-Extracted Genetic Variants

Gene:MFSD2A
Variant:p.P402H
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MFSD2A

NM_032793.5:p.P402H

Associated Papers

Structural insights into the lysophospholipid brain uptake mechanism and its inhibition by syncytin-2.

Martinez-Molledo M et al.

Nature Structural & Molecular Biology, 2022

Structure and mechanism of blood-brain-barrier lipid transporter MFSD2A.

Wood CAP et al.

Nature, 2021

Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features.

Scala M et al.

European Journal of Human Genetics : Ejhg, 2020

Mfsd2a: A Physiologically Important Lysolipid Transporter in the Brain and Eye.

Wong BH et al.

Advances in Experimental Medicine and Biology, 2020

Homozygous mutation in MFSD2A, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelination.

Harel T et al.

Neurogenetics, 2018

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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."