Varaico: Literature-Extracted Genetic Variants

Gene:FLVCR1
Variant:p.A72insFs
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FLVCR1

NM_014053.4:p.A72insFs

Associated Papers

Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families.

Safwat S et al.

Neurogenetics, 2024

Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders.

Calame DG et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

38405817 (PubMed )
Supplement: media-2.xlsx › New_families
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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."