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- 616.04205 14
- Human chromosome abnormalities -- Periodicals 14
- Mutation (Biology) -- Periodicals 14
- 3′ untranslated region -- breast neoplasm -- ovarian; tumor suppressor -- genetic testing -- information theory -- RNA stability 1
- BRCA1 -- BRCA2 -- cancer predisposition -- unclassified variant -- variant of uncertain significance -- rare variant 1
- CDG -- asparagine‐linked glycosylation protein 1 -- carbohydrate‐deficient transferrin -- xeno‐tetrasaccharide 1
- Copy number variant -- Founder allele -- Mutational hotspot -- SPG11 1
- Fryns syndrome -- diaphragmatic hernia -- PIGN -- Phosphatidylinositol Glycan Anchor Biosynthesis Class N -- multiple congenital anomalies hypotonia seizures 1
- GlcNAc‐1‐phosphotransferase -- GNPTG -- misfolding -- mucolipidosis III γ 1
- amylase 1 -- AMY1 -- amylase 2A -- AMY2A -- copy number variation -- Chinese -- Malay -- obesity 1