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_Table_S1.xlsx › Supplemental_Table1
A variant in long noncoding RNA NORSF affects granulosa cells response to transcription factor RFX7.
Wang M et al.
Journal of Cellular Physiology, 2024
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.
Bogaert E et al.
American Journal of Human Genetics, 2023
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