Search
Search Constraints
You searched for: Is Part Of Human mutation. Volume 38:Issue 8(2017)Limit your search
- , 2
- Chen, Jian‐Min 2
- Cooper, David N. 2
- Dou, Yanmei 2
- Férec, Claude 2
- Huang, August Yue 2
- Li, Jiarui 2
- Li, Zhao‐Shen 2
- Li, Ziyi 2
- Liao, Zhuan 2
- 616.04205 20
- Human chromosome abnormalities -- Periodicals 20
- Mutation (Biology) -- Periodicals 20
- ACTG1 -- eye development -- ocular coloboma -- tissue fusion 1
- CDKL5 -- database -- FOXG1 -- locus‐specific database -- MECP2 -- mutation -- phenotype–genotype correlations -- Rett syndrome 1
- CHCHD2 -- Drosophila -- Parkinson disease -- pathogenic variant -- risk variant 1
- CPA1 gene -- idiopathic chronic pancreatitis -- missense mutations -- next‐generation sequencing -- rare variants 1
- Caseine kinase 2 -- CSNK2B -- intellectual disability -- splice variants 1
- association studies -- imputation -- 1000 Genomes Project reference panel -- Haplotype Reference Consortium -- vertical cup‐disc ratio 1
- ataxia -- mitochondrial dynamics -- MSTO1 -- myopathy -- skeletal abnormalities 1