Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders
Author:
Funder
Japan Agency for Medical Research and Development
KAKENHI
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://www.nature.com/articles/s10038-023-01206-5.pdf
Reference28 articles.
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3. Byrne AB, Arts P, Polyak SW, Feng J, Schreiber AW, Kassahn KS, et al. Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6. NPJ Genom Med. 2019;14:28.
4. Hauth I, Waterham H, Wanders RJ, Van Der Crabben S, Van Karnebeek CD. A mild case of SMVT deficiency illustrating the importance of treatment response in variant classification. Mol Case Stud. 2022;8:a006185.
5. Holling T, Nampoothiri S, Tarhan B, Schneeberger PE, Vinayan KP, Yesodharan D, et al. Novel biallelic variants expand the SLC5A6-related phenotypic spectrum. Eur J Hum Genet. 2022;30:439–49.
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