Sep 2026
Novel Branch Point Variant in PGAP1 Causing Neurodevelopmental Disorder
Ida Marie Aakerlund, Maria Barington, T. van Overeem Hansen et al.
· Current Genetic Medicine Rep... · 0 citations
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Sep 2026
Phenotypic manifestations and variant reclassification of germline PTEN variants: a nationwide Danish study.
The authors identified 87 different PTEN variants, and application of PTEN gene-specific ACMG guidelines led to reclassification of 32 variants, underscoring the importance of regular variant reassessment using the most recent gene-specific guidelines, ensuring optimal patient management and surveillance.
Annette Lyngholm Sandsdalen, A. M. Jelsig, B. Bertelsen et al.
· Journal of Medical Genetics · 0 citations