Compendium of causative genes and their encoded proteins for common monogenic disorders
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DOI: 10.1002/pro.4183
Abstract: A compendium is presented of inherited monogenic disorders that have a prevalence of >1:20,000 in the human population, along with their causative genes and encoded proteins. “Simple” monogenic diseases are those for which the clinical… read more here.
Keywords: compendium causative; genes encoded; monogenic disorders; causative genes ... See more keywords