Publications:

First comprehensive TSC1/TSC2 mutational analysis in Mexican patients with Tuberous Sclerosis Complex reveals numerous novel pathogenic variants.

Scientific Reports

Reyna-Fabián, Miriam E ME; Hernández-Martínez, Nancy L NL; Alcántara-Ortigoza, Miguel A MA; Ayala-Sumuano, Jorge T JT; Enríquez-Flores, Sergio S; Velázquez-Aragón, José A JA; Varela-Echavarría, Alfredo A; Todd-Quiñones, Carlos G CG; González-Del Angel, Ariadna A

Publication Date: 2020-04-20

Variant appearance in text: TSC2: 4660C>T

PubMed Link: 32313033

Variant Present in the following documents:

• Main text
• 41598_2020_Article_62759.pdf

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Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing.

Plos Genetics

Tyburczy, Magdalena E ME; Dies, Kira A KA; Glass, Jennifer J; Camposano, Susana S; Chekaluk, Yvonne Y; Thorner, Aaron R AR; Lin, Ling L; Krueger, Darcy D; Franz, David N DN; Thiele, Elizabeth A EA; Sahin, Mustafa M; Kwiatkowski, David J DJ

Publication Date: 2015-11

Variant appearance in text: TSC2: 4660C>T; Q1554*

PubMed Link: 26540169

Variant Present in the following documents:

• Main text
• pgen.1005637.pdf

View BVdb publication page