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: 498_500del

PubMed Link: 36855133

Variant Present in the following documents:

• 12920_2023_1454_MOESM2_ESM.xlsx, sheet 1

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Functional Characterization of a Spectrum of Novel Romano-Ward Syndrome KCNQ1 Variants.

International Journal Of Molecular Sciences

Rinné, Susanne S; Oertli, Annemarie A; Nagel, Claudia C; Tomsits, Philipp P; Jenewein, Tina T; Kääb, Stefan S; Kauferstein, Silke S; Loewe, Axel A; Beckmann, Britt Maria BM; Decher, Niels N

Publication Date: 2023-01-10

Variant appearance in text: KCNQ1: F166del

PubMed Link: 36674868

Variant Present in the following documents:

• ijms-24-01350.pdf

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A computational model of induced pluripotent stem-cell derived cardiomyocytes for high throughput risk stratification of KCNQ1 genetic variants.

Plos Computational Biology

Kernik, Divya C DC; Yang, Pei-Chi PC; Kurokawa, Junko J; Wu, Joseph C JC; Clancy, Colleen E CE

Publication Date: 2020-08

Variant appearance in text: KCNQ1: F167del

PubMed Link: 32797034

Variant Present in the following documents:

• Main text
• pcbi.1008109.pdf

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