Functional analysis of a novel, non-canonical rpgr splice variant causing x-linked retinitis pigmentosa

HIGHLIGHTS

• who: Samuel Koller et al. from the Institute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland have published the article: Functional Analysis of a Novel, Non-Canonical RPGR Splice Variant Causing X-Linked Retinitis Pigmentosa, in the Journal: Genes 2023, 14, 934. of 12/03/2023
• what: The authors report a novel non-canonical splice site variant in RPGR intron 11 identified in a patient with characteristic clinical manifestations of XLRP.

SUMMARY

Subsequently, variant calling was carried out using GATK HaplotypeCaller, and the identified variants were assigned a score by . . .

 



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