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Variant pathogenicity evaluation in the community-driven Inherited Neuropathy Variant Browser
Charcot-Marie-Tooth disease (CMT) is an umbrella term for inherited neuropathies affecting an estimated 1 in 2500 people. Over 120 CMT and related genes have been identified and clinical gene panels often contain more than 100 genes. Such a large genomic space will invariantly yield variants of unce...
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| Veröffentlicht in: | Hum Mutat |
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| Hauptverfasser: | , , , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2018
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5903998/ https://ncbi.nlm.nih.gov/pubmed/29473246 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23412 |
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