Associated Papers
Novel mutations in FLVCR1 cause tremors, sensory neuropathy with retinitis pigmentosa.
Li Z et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 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
Mfsd7b facilitates choline transport and missense mutations affect choline transport function.
Ha HTT et al.
Cellular and Molecular Life Sciences : Cmls, 2023
Isolated juvenile macular dystrophy without posterior column ataxia associated with FLVCR1 mutation.
Lachmann ES et al.
Ophthalmic Genetics, 2021
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