Associated Papers
Investigating and correcting a rare pathogenic mutation in GDF11.
Congdon ST et al.
Hgg Advances, 2026
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
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11.
Ravenscroft TA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
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