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Extension of the Pompe mutation database by linking disease‐associated variants to clinical severity
Pompe disease is an autosomal recessive lysosomal storage disorder caused by disease‐associated variants in the acid alpha‐glucosidase (GAA) gene. The current Pompe mutation database provides a severity rating of GAA variants based on in silico predictions and expression studies. Here, we extended t...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Hum Mutat |
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| Κύριοι συγγραφείς: | , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
John Wiley and Sons Inc.
2019
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6851659/ https://ncbi.nlm.nih.gov/pubmed/31254424 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23854 |
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