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Article

Towards a Long-Read Sequencing Approach for the Molecular Diagnosis of RPGRORF15 Genetic Variants.

International journal of molecular sciences - 28 Nov 2023

Bonetti Gabriele, Cozza William, Bernini Andrea, Kaftalli Jurgen, Mareso Chiara, Cristofoli Francesca, Medori Maria Chiara, Colombo Leonardo, Martella Salvatore, Staurenghi Giovanni, Salvetti Anna Paola, Falsini Benedetto, Placidi Giorgio, Attanasio Marcella, Pertile Grazia, Bengala Mario, Bosello Francesca, Petracca Antonio, D'Esposito Fabiana, Toschi Benedetta, Lanzetta Paolo, Ricci Federico, Viola Francesco, Marceddu Giuseppe, Bertelli Matteo

Abstract excerpt

Sequencing of the low-complexity ORF15 exon of RPGR, a gene correlated with retinitis pigmentosa and cone dystrophy, is difficult to achieve with NGS and Sanger sequencing. False results could lead to the inaccurate annotation of genetic variants in dbSNP and ClinVar databases, tools on which HGMD and Ensembl rely, finally resulting in incorrect genetic variants interpretation. This paper aims to propose PacBio...

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Identifiers

PMID: 38069202
DOI: 10.3390/ijms242316881
PMCID: PMC10706286

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Towards a Long-Read Sequencing Approach for the Molecular Diagnosis of RPGRORF15 Genetic Variants.PMID 38069202Read ↗

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