Associated Papers
Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.
Mok JW et al.
Genome Research, 2025
40467338 (PubMed )
Supplement: Supplemental_Materials.docx
Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features.
Li D et al.
Science Advances, 2021
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