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- 616.04205 2,151
- Human chromosome abnormalities -- Periodicals 2,151
- Mutation (Biology) -- Periodicals 2,151
- A2ML1 -- alpha‐2‐macroglobulin‐like‐1 -- exome sequencing -- otitis media -- RNA‐sequencing 2
- BRCA2 -- breast cancer -- ES cell‐based assay -- functional evaluation -- molecular dynamic analysis -- variants of uncertain clinical significance (VUS) 2
- CAGI -- performance -- predictors -- substitutions -- SUMO 2
- CCM2 -- human phenotype ontology -- KRIT1 -- leiden open variation database -- mutation -- PDCD10 -- variant interpretation 2
- CSNB -- GRK1 -- Oguchi disease -- rhodopsin 2
- Cornelia de Lange -- exome sequencing -- MRXS33 intellectual disability syndrome -- TAF1 -- transcriptomopathy 2
- Leigh syndrome -- mitochondrial disease -- NADH ubiquinone oxidoreductase -- NDUFA12 2