Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum.
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Calame DG, et al. Among authors: mardi a.
Genet Med. 2025 Jan;27(1):101273. doi: 10.1016/j.gim.2024.101273. Epub 2024 Sep 19.
Genet Med. 2025.
PMID: 39306721
