A novel SLC5A6 homozygous variant in a family with multivitamin-dependent neurometabolic disorder: Phenotype expansion and long-term follow-up-Reference-Cited by-同舟云学术

A novel SLC5A6 homozygous variant in a family with multivitamin-dependent neurometabolic disorder: Phenotype expansion and long-term follow-up

Published:2023-08 Issue:8 Volume:66 Page:104808
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Montomoli Martino,Vetro Annalisa^ORCID,Tubili Flavia,Donati Maria Alice,Daniotti Marta,Pochiero Francesca,Rivieri Francesca,Girlando Salvatore,Guerrini Renzo

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

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