A novel frameshift variant in UBA2 causing split-hand/foot malformations in a Pakistani family
Abstract Split-hand/foot malformation (SHFM) shows diverse heterogeneity and manifests with reduced penetrance and variable expressivity. This study investigated the underlying genetic cause of a family segregating SHFM. Exome sequencing followed by Sanger sequencing identified a novel single nucleo...
I tiakina i:
| Ngā kaituhi matua: | , , , , , |
|---|---|
| Hōputu: | Artigo |
| Reo: | Inglês |
| I whakaputaina: |
Nature Publishing Group
2023-05-01
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| Rangatū: | Human Genome Variation |
| Urunga tuihono: | https://doi.org/10.1038/s41439-023-00242-z |
| Ngā Tūtohu: |
Kāore He Tūtohu, Me noho koe te mea tuatahi ki te tūtohu i tēnei pūkete!
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