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You searched for: Journal Human mutation Issue Volume 41:Issue 10(2020)Limit your search
- 616.04205 14
- Human chromosome abnormalities -- Periodicals 14
- Mutation (Biology) -- Periodicals 14
- ACMG -- Bayesian framework -- medical genetics -- points‐based classification system -- scoring metric -- unclassified variants -- variant classification -- variants of uncertain significance -- VUS 1
- BCAP31 -- DDCH -- female with X‐linked recessive disease -- splicing variants -- X‐inactivation 1
- BRCA1 and MAPT -- exome sequencing -- functional assays -- in silico predictions -- increased exon skipping or inclusion -- molecular diagnostics -- MSH2 -- pseudoexons -- RNA splicing -- splicing regulatory elements -- variant interpretation 1
- C1QBP -- mitochondrial DNA -- primary mitochondrial myopathy -- progressive external ophthalmoplegia 1
- CALPAIN 3 -- CAPN3 -- exonic -- LGMD2A -- LGMDR1 -- minigene -- missense variant -- neuromuscular disease -- splicing 1
- CDKN2A -- COSMIC -- melanoma -- mutation rate -- UV exposure 1
- CHDSKM -- congenital heart defects -- hearing impairment -- renal hypoplasia -- skeletal malformations 1