טוען...
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...
שמור ב:
| הוצא לאור ב: | Hum Mutat |
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| Main Authors: | , , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
John Wiley and Sons Inc.
2019
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| נושאים: | |
| גישה מקוונת: | 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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