Associated Papers
Differential Effects of Sucrase-Isomaltase Mutants on Its Trafficking and Function in Irritable Bowel Syndrome: Similarities to Congenital Sucrase-Isomaltase Deficiency.
Husein DM et al.
Nutrients, 2020
Increased Prevalence of Rare Sucrase-isomaltase Pathogenic Variants in Irritable Bowel Syndrome Patients.
Garcia-Etxebarria K et al.
Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association, 2018
R106C TFG variant causes infantile neuroaxonal dystrophy "plus" syndrome.
Catania A et al.
Neurogenetics, 2018
KIR2DL5 mutation and loss underlies sporadic dermal neurofibroma pathogenesis and growth.
Anastasaki C et al.
Oncotarget, 2017
28548933 (PubMed )
Supplement: oncotarget-08-47574-s002.xlsx › Sheet1
Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.
Cereda M et al.
Nature Communications, 2016
27377421 (PubMed )
Supplement: ncomms12072-s6.xlsx › Supplementary_Data_5
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