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Protein S deficiency disease
- ... also called PMM2 -CDG Cystic fibrosis D-bifunctional protein deficiency Dihydrolipoamide ... storage disease type I Hereditary fructose intolerance ...
- ... expressed, and each version makes a slightly different protein. Both alleles ... heart disease, type 2 diabetes , schizophrenia , and certain types of ...
- ... causes the condition (for example, alpha-1 antitrypsin ... estimated 20,000 to 25,000 protein-coding genes in the human genome. During the ...
- ... variants in those genes) when providing health or disease risk ... by BTD gene variants.) Learn ...