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Article

Genetics 101 for cardiologists: rare genetic variants and monogenic cardiovascular disease.

The Canadian journal of cardiology - 1 Jan 2013

Farhan Sali M K, Hegele Robert A

Abstract excerpt

Monogenic diseases have a distinctive familial inheritance that follows Mendel's laws, showing patterns like dominant, recessive, or X-linked. There are > 7000 monogenic diseases curated in databases, and together they account for up to 10% of all illnesses encountered in the emergency room or clinic. Despite the rarity of individual monogenic conditions, mapping their causative genes and mutations is important...

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PMID: 23200093
DOI: 10.1016/j.cjca.2012.10.010

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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