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- Biology, life sciences 2
- Genetics (non-medical) 2
- Research & information: general 2
- exome sequencing
- genetics 2
- Amyoplasia 1
- BMPR2 1
- BMPR2 promoter 1
- CHRNG 1
- CNV 1
- CNV (copy number variant) 1
- DA (distal arthrogryposis) 1
- DECIPHER (DatabasE of genomiC variation and Phenotype in Humans using Ensemble Resources) 1
- DNA damage 1
- DNA methylation 1
- DNA repair 1
- EIF2AK4 1
- ESR1 1
- Escobar 1
- FGFR1 (Fibroblast growth factor receptor 1) 1
- GDF2 1
- HPO (human phenotype ontology) 1
- IGF2 1
- IPA (ingenuity pathway analysis) 1
- MYH3 1
- MYOD 1
- NGS 1
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- PAH 1
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2Publicado 2022Libro electrónico