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Article

A multistep approach to the genotype-phenotype analysis of Polish patients with tuberous sclerosis complex.

European journal of medical genetics - 1 Oct 2021

Bąbol-Pokora Katarzyna, Bielska Marta, Bobeff Katarzyna, Jatczak-Pawlik Izabela, Borkowska Julita, Kotulska Katarzyna, Jóźwiak Sergiusz, Młynarski Wojciech, Trelińska Joanna

Abstract excerpt

The aim of this study was to evaluate a cost-effective diagnostic strategy for identification of casual variants for tuberous sclerosis complex (TSC) in the Polish population and to correlate the genetic results with selected phenotypic features. Fifty-five patients, aged 3-44 years, with a clinical diagnosis of TSC were enrolled into the study. All patients received a three-step analysis: next generation...

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PMID: 34403804
DOI: 10.1016/j.ejmg.2021.104309

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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