Novel PGAP1 Splice-Site Variant Broadens Known Spectrum of GPI-Anchor Disorders
Researchers identified a novel homozygous PGAP1 splice-site variant, classified as likely pathogenic, in a patient with neurodevelopmental impairment, expanding the ...
Tag: splice-site variant
Novel CNKSR2 Splice Variant Shown to Skip Exon 16 in Boy with Epileptic Encephalopathy
A novel de novo CNKSR2 intronic variant was shown by minigene assays to cause exon 16 skipping, supporting its reclassification ...
