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Article

TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complex.

American journal of medical genetics. Part A - 1 Mar 2017

Farach Laura S, Gibson William T, Sparagana Steven P, Nellist Mark, Stumpel Connie T R M, Hietala Marja, Friedman Elliott, Pearson Deborah A, Creighton Susan P, Wagemans Annemiek, Segel Reveel, Ben-Shalom Efrat, Au Kit Sing, Northrup Hope

Abstract excerpt

Tuberous sclerosis complex (TSC) is an autosomal dominantly inherited disorder with variable expressivity associated with hamartomatous tumors, abnormalities of the skin, and neurologic problems including seizures, intellectual disability, and autism. TSC is caused by pathogenic variants in either TSC1 or TSC2. In general, TSC2 pathogenic variants are associated with a more severe phenotype than TSC1 pathogenic...

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Source

Identifiers

PMID: 28211972
DOI: 10.1002/ajmg.a.38083

Genes

TSC2
TSC1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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