Rosemary Ekong Mark Nellist Marianne Hoogeveen-Westerveld Marjolein Wentink Jessica Panzer Steven Sparagana Warren Emmett Natalie L Dawson Marie Claire Malinge Rima Nabbout Caterina Carbonara Marco Barberis Sergio Padovan Marta Futema Vincent Plagnol Steve E Humphries Nicola Migone Sue Povey
10.1002/humu.22951
Hum Mutat
2016 Apr;37(4):364-70.
tsc2 alternative splicing diagnosis tuberous sclerosis variants
CC BY
https://pubmed.ncbi.nlm.nih.gov/26703369/
Exons Genetic Association Studies Mutation Tuberous Sclerosis / diagnosis Tuberous Sclerosis / genetics Tumor Suppressor Proteins / genetics
Exons Genetic Association Studies Mutation Tuberous Sclerosis / diagnosis Tuberous Sclerosis / genetics Tumor Suppressor Proteins / genetics Case Reports Research Support, Non-U.S. Gov't Adult Alleles Alternative Splicing Child Child, Preschool Computational Biology / methods Databases, Genetic Gene Expression Genetic Variation Humans Phenotype Tuberous Sclerosis Complex 2 Protein TSC2 protein, human Tuberous Sclerosis Complex 2 Protein Tumor Suppressor Proteins
PMC4843954
26703369
Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis
2016