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Article

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

Scientific reports - 20 Apr 2020

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

Abstract excerpt

The aim of this study was to improve knowledge of the mutational spectrum causing tuberous sclerosis complex (TSC) in a sample of Mexican patients, given the limited information available regarding this disease in Mexico and Latin America. Four different molecular techniques were implemented to identify from single nucleotide variants to large rearrangements in the TSC1 and TSC2 genes of 66 unrelated...

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Identifiers

PMID: 32313033
DOI: 10.1038/s41598-020-62759-5
PMCID: PMC7170856

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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