Publications:

Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels.

Bmc Medical Genomics

Cannon, S S; Williams, M M; Gunning, A C AC; Wright, C F CF

Publication Date: 2023-02-28

Variant appearance in text: KCNQ1: 1841_1843del

PubMed Link: 36855133

Variant Present in the following documents:

• 12920_2023_1454_MOESM2_ESM.xlsx, sheet 1

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: KCNQ1: 1840_1842del

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity.

Circulation. Cardiovascular Genetics

Giudicessi, John R JR; Ackerman, Michael J MJ

Publication Date: 2013-04

Variant appearance in text: LQT1: H614del

PubMed Link: 23392653

Variant Present in the following documents:

• Main text

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