article_metadata: 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
article_metadata: 10.1002/humu.22951
article_metadata: Hum Mutat
article_metadata: 2016 Apr;37(4):364-70.
article_metadata: tsc2 alternative splicing diagnosis tuberous sclerosis variants
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/26703369/
article_metadata: Exons Genetic Association Studies Mutation Tuberous Sclerosis / diagnosis Tuberous Sclerosis / genetics Tumor Suppressor Proteins / genetics
article_metadata: 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
article_metadata: PMC4843954
article_metadata: 26703369
article_metadata: Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis
article_metadata: 2016