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E. Flex

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Oct 2026

Functional stratification of YWHAZ variants explains distinct neurodevelopmental disorders.

The application of clinical genomics in personalized medical practice increasingly reveals that variants from single loci can lead to phenotypic heterogeneity. This necessitates functional characterization and classification of serial variants to correlate their associated clinical features and molecular properties. Re...

Ivan K. Popov, M. Motta, I. G. Prandi et al. · 0 citations
Open access Oct 2026

Bi-Allelic PRKCZ Loss-of-Function Variants and Adult-Onset Retinitis Pigmentosa.

Importance Inherited retinal diseases are genetically heterogeneous disorders, with retinitis pigmentosa (RP) representing the most common form; although more than 90 genes have been implicated, many RP cases remain molecularly unsolved. Objectives To describe an adult-onset RP phenotype associated with loss-of-funct...

Viviana Cordeddu, Riccardo Sangermano, S. Mulder et al. · 1 citation

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