Associated Papers
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.
Abul-Husn NS et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
36993157 (PubMed )
Supplement: media-2.xlsx › eTable_5
A rare cause of infantile achalasia: GMPPA-congenital disorder of glycosylation with two novel compound heterozygous variants.
Geiculescu I et al.
American Journal of Medical Genetics. Part A, 2022
35665995 (PubMed )
Supplement: AJMG-188-2438-s002.xlsx › Sheet1
Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.
Koehler K et al.
American Journal of Human Genetics, 2013
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