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Author

E. Rahikkala

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Open access Jul 2026

XXYLT1 and Mendelian Retinal Dystrophy

Findings support the need to include XXYLT1 in clinical IRD gene panels, one of the identified genes, as a rare mendelian IRD gene in independent Finnish and UK clinical cohorts.

Minna Kraatari-Tiri, Hina Ishtiaq, J. Tyrmi et al. · 0 citations
Open access Jul 2026

INTS6 loss of function disrupts transcriptional regulation in mild intellectual disability

The discovery of a family with six affected members carrying a heterozygous loss- of-function variant in INTS6 highlights the critical role of INTS6 in transcriptional regulation of human neurodevelopment and reinforces its association with NDDs.

Nelli Jalkanen, K. Trontti, Antto J. Norppa et al. · 0 citations

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