In silico splicing analysis of the PMS2 gene: exploring alternative molecular mechanisms in PMS2-associated Lynch syndrome

In silico splicing analysis of the PMS2 gene: exploring alternative molecular mechanisms in PMS2-associated Lynch syndrome

Abstract Lynch syndrome (LS) is one of the most common hereditary cancer syndrome in human populations, associated with germline variants in MLH1, MSH2/EPCAM, MSH6 and PMS2 genes. The advent of next generation sequencing has proven a significant impact in germline variant detection in the causative...

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Main Authors: Cătălin Vasile Munteanu, Cătălin Marian, Adela Chiriță-Emandi, Maria Puiu, Adrian Pavel Trifa
Format: Article
Language:English
Published: BMC 2024-11-01
Series:BMC Genomic Data
Subjects:
Lynch syndrome
Mismatch repair gene PMS2
Alternative splicing
RNA splicing
Splicing mutations
Exon skipping
Online Access:https://doi.org/10.1186/s12863-024-01281-3
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https://doi.org/10.1186/s12863-024-01281-3

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