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Review Open access Oct 2026

Expanding the clinical spectrum of recessive CRX-associated retinal disease: an early-onset retinal dystrophy phenotype

To characterize the clinical and genetic findings in three affected siblings from a consanguineous family with a novel homozygous CRX variant and an early-onset retinal dystrophy (EORD) phenotype, and to review previously reported cases of recessive CRX -associated retinal disorders. Comprehensiv...

M. F. Mulayim, Burak Acar, Y. Bahap et al. · 0 citations
Open access Jul 2026

HECTOR: A Web-Based Tool for Automated BRCA1/BRCA2 Variant Classification Under the ClinGen ENIGMA Specifications

HECTOR provides a faithful, transparent implementation of the ENIGMA VCEP v1.2 specifications for BRCA1 and BRCA2, enabling rapid, standardized, and reproducible application of gene-specific variant classification guidelines while reducing the burden of manual curation.

T. Duzenli, A. Babazade, O. Vural et al. · 0 citations

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