Associated Papers
Genetic Variants in Carbohydrate Digestive Enzyme and Transport Genes Associated with Risk of Irritable Bowel Syndrome.
Hong H et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing.
Thiffault I et al.
Cold Spring Harbor Molecular Case Studies, 2020
32358097 (PubMed )
Supplement: supp_mcs.a003970_Supplemental_Table.xlsx › Variants_in_OMIM
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 762.297
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