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Article

Noncanonical Splice Site and Deep Intronic FRMD7 Variants Activate Cryptic Exons in X-linked Infantile Nystagmus.

Translational vision science & technology - 1 Jun 2022

Lee Junwon, Jeong Han, Won Dongju, Shin Saeam, Lee Seung-Tae, Choi Jong Rak, Byeon Suk Ho, Kuht Helen J, Thomas Mervyn G, Han Jinu

Abstract excerpt

Purpose: We aim to report noncoding pathogenic variants in patients with FRMD7-related infantile nystagmus (FIN). Methods: Genome sequencing (n = 2 families) and reanalysis of targeted panel next generation sequencing (n = 2 families) was performed in genetically unsolved cases of suspected FIN. Previous sequence analysis showed no pathogenic coding variants in genes associated with infantile nystagmus. SpliceAI,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35762937
DOI: 10.1167/tvst.11.6.25
PMCID: PMC9251792

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