ArticleGenes2026
Interference of Small Sequence Variants with MLPA in
Article in Genes, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
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Corrections and comments
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Authors and funding
3 authors.
Funding
Abstract
BACKGROUND/
objectivesCongenital myotonia (CM) is an inherited neuromuscular disorder caused by mutations in the Chloride Voltage-Gated Channel 1 (
methodsPatients carrying pathogenic
resultsIn the analysed patients, MLPA identified apparent exon deletions involving the same exons in which the previously identified variants were present. However, no actual variation in copy number was observed at the exon level. This discrepancy is linked to the efficiency of probe hybridization and ligation to target sequences. Small sequence variations can interfere with probe binding, preventing their correct ligation and resulting in a signal pattern consistent with apparent exon loss, thereby generating false positives.
conclusionsOur findings highlight the importance of integrating sequencing and MLPA data in
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