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Article

Analysis and interpretation of RNA splicing alterations in genes involved in genetic disorders.

Methods in molecular biology (Clifton, N.J.) - 1 Jan 2012

Vreeswijk Maaike P G, van der Klift Heleen M

Abstract excerpt

Germ line mutations in genes involved in hereditary cancer syndromes, such as BRCA1 and BRCA2 in breast cancer and MSH2, MSH6, MLH1, and PSM2 in hereditary nonpolyposis colorectal cancer (HNPCC, more recently indicated as Lynch syndrome), confer a high risk to develop cancer. Mutation analysis in...

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Source

Identifiers

PMID: 22454054
DOI: 10.1007/978-1-61779-767-5_4

Genes

BRCA1
BRCA2
MLH1
MSH2
MSH6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22454054-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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