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Properties of human genes guided by their enrichment in rare and common variants
We analyzed 563,099 common (minor allele frequency, MAF≥0.01) and rare (MAF < 0.01) genetic variants annotated in ExAC and UniProt and 26,884 disease‐causing variants from ClinVar and UniProt occurring in the coding region of 17,975 human protein‐coding genes. Three novel sets of genes were ident...
Gardado en:
| Publicado en: | Hum Mutat |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
John Wiley and Sons Inc.
2017
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5838408/ https://ncbi.nlm.nih.gov/pubmed/29197136 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23377 |
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