@article{9a77ebcf16854c66a2676d9e14e2e63e,
title = "TSC2 c.1864C > T Variant Aassociated with Mild Cases of Tuberous Sclerosis Complex",
keywords = "tuberous sclerosis complex, genotype-phenotype association, rhabdomyoma, genetic counseling, TSC2, MUTATIONAL ANALYSIS, PHENOTYPE, GENOTYPE, SEVERITY, GENES",
author = "Farach, {Laura S.} and Gibson, {William T.} and Sparagana, {Steven P.} and Mark Nellist and Stumpel, {Connie T. R. M.} and Marja Hietala and Elliott Friedman and Pearson, {Deborah A.} and Creighton, {Susan P.} and Annemiek Wagemans and Reveel Segel and Efrat Ben-Shalom and Au, {Kit Sing} and Hope Northrup",
year = "2017",
month = mar,
doi = "10.1002/ajmg.a.38083",
language = "English",
volume = "173",
pages = "771--775",
journal = "American Journal of Medical Genetics Part A",
issn = "1552-4825",
publisher = "Wiley",
number = "3",
}