Associated Papers
Novel SRY-box transcription factor 9 variant in campomelic dysplasia and the location of missense and nonsense variants along the protein domains: A case report.
Calvache CA et al.
Frontiers in Pediatrics, 2022
Profiling diverse sequence tandem repeats in colorectal cancer reveals co-occurrence of microsatellite and chromosomal instability involving Chromosome 8.
Shin G et al.
Genome Medicine, 2021
34488871 (PubMed )
Supplement: 13073_2021_958_MOESM2_ESM.xlsx › Table_S15_Variant_annotation
The presence of diminished white matter and corpus callosal thinning in a case with a SOX9 mutation.
Matsumoto A et al.
Brain & Development, 2018
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