Incomplete Penetrance and Variable Expressivity: From Clinical Studies to Population Cohorts

The same genetic variant found in different individuals can cause a range of diverse phenotypes, from no discernible clinical phenotype to severe disease, even among related individuals. Such variants can be said to display incomplete penetrance, a binary phenomenon where the genotype either causes...

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Bibliographic Details

Published in:	Frontiers in genetics Vol. 13; p. 920390
Main Authors:	Kingdom, Rebecca, Wright, Caroline F.
Format:	Journal Article
Language:	English
Published:	Switzerland Frontiers Media S.A 25.07.2022
Subjects:	expressivity Genetics genomic sequencing penetrance rare disease variant intepretation genomic sequencing variant intepretation rare disease expressivity penetrance
ISSN:	1664-8021, 1664-8021
Online Access:	Get full text
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