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Article

The Caveolin-3 G56S sequence variant of unknown significance: Muscle biopsy findings and functional cell biological analysis.

Proteomics. Clinical applications - 1 Jan 2017

Brauers Eva, Roos Andreas, Kollipara Laxmikanth, Zahedi René P, Beckmann Alf, Mohanadas Nilane, Bauer Hartmut, Häusler Martin, Thoma Stéphanie, Kress Wolfram, Senderek Jan, Weis Joachim

Abstract excerpt

PURPOSE: In the era of next-generation sequencing, we are increasingly confronted with sequence variants of unknown significance. This phenomenon is also known for variations in Caveolin-3 and can complicate the molecular diagnosis of the disease. Here, we aimed to study the ambiguous character of the G56S Caveolin-3 variant. EXPERIMENTAL DESIGN: A comprehensive approach combining genetic and morphological...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27739254
DOI: 10.1002/prca.201600007
PMCID: PMC5248598

Genes

EGFR

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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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