טוען...
Co-Occurring Heterozygous CNOT3 and SMAD6 Truncating Variants: Unusual Presentation and Refinement of the IDDSADF Phenotype
Objective, the application of genomic sequencing in clinical practice has allowed us to appreciate the contribution of co-occurring pathogenic variants to complex and unclassified clinical phenotypes. Besides the clinical relevance, these findings have provided evidence of previously unrecognized fu...
שמור ב:
| הוצא לאור ב: | Genes (Basel) |
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| Main Authors: | , , , , , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
MDPI
2021
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8303239/ https://ncbi.nlm.nih.gov/pubmed/34208845 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes12071009 |
| תגים: |
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