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Article

TITINdb-a computational tool to assess titin's role as a disease gene.

Bioinformatics (Oxford, England) - 1 Nov 2017

Laddach Anna, Gautel Mathias, Fraternali Franca

Abstract excerpt

SUMMARY: Large numbers of rare and unique titin missense variants have been discovered in both healthy and disease cohorts, thus the correct classification of variants as pathogenic or non-pathogenic has become imperative. Due to titin's large size (363 coding exons), current web applications are unable to map titin variants to domain structures. Here, we present a web application, TITINdb, which integrates titin...

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Identifiers

PMID: 29077808
DOI: 10.1093/bioinformatics/btx424
PMCID: PMC5860166

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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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