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Article

A massively parallel assay accurately discriminates between functionally normal and abnormal variants in a hotspot domain of KCNH2.

American journal of human genetics - 7 Jul 2022

Ng Chai-Ann, Ullah Rizwan, Farr Jessica, Hill Adam P, Kozek Krystian A, Vanags Loren R, Mitchell Devyn W, Kroncke Brett M, Vandenberg Jamie I

Abstract excerpt

Many genes, including KCNH2, contain "hotspot" domains associated with a high density of variants associated with disease. This has led to the suggestion that variant location can be used as evidence supporting classification of clinical variants. However, it is not known what proportion of all potential variants in hotspot domains cause loss of function. Here, we have used a massively parallel trafficking assay...

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Source

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Identifiers

PMID: 35688148
DOI: 10.1016/j.ajhg.2022.05.003
PMCID: PMC9300756

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