Response to Kulseth
Author:
Publisher
Elsevier BV
Reference9 articles.
1. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology;Richards;Genet Med,2015
2. Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app;Hoytema van Konijnenburg;Orphanet J Rare Dis,2021
3. Quo vadis: the re-definition of “inborn metabolic diseases”;Morava;J Inherit Metab Dis,2015
4. Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants;Vogel;Genet Med,2023
5. Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants;Vogel;Genet Med,2023
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