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Article

Two‑gene mutation in a single patient: Biochemical and functional analysis for a correct interpretation of exome results.

Molecular medicine reports - 1 Oct 2015

Bianco Anna Monica, Faletra Flavio, Vozzi Diego, Girardelli Martina, Knowles Alessandra, Tommasini Alberto, Zauli Giorgio, Marcuzzi Annalisa

Abstract excerpt

Next-generation sequencing (NGS) has generated a large amount of sequence data with the requirement of frequent critical revisions of reported mutations. This innovative tool has proved to be effective in detecting pathogenic mutations; however, it requires a certain degree of experience to ident...

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Identifiers

PMID: 26300074
DOI: 10.3892/mmr.2015.4215

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-26300074-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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