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Allelic heterogeneity of Proteus syndrome
Proteus syndrome is a mosaic disorder that can cause progressive postnatal overgrowth of nearly any organ or tissue. To date, Proteus syndrome has been exclusively associated with the mosaic c.49G > A p.(Glu17Lys) pathogenic variant in AKT1, a variant that is also present in many cancers. Here we...
שמור ב:
| הוצא לאור ב: | Cold Spring Harb Mol Case Stud |
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| Main Authors: | , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Cold Spring Harbor Laboratory Press
2020
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7304363/ https://ncbi.nlm.nih.gov/pubmed/32327430 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a005181 |
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