Publications:

Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.

Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation

van Lint, F H M FHM; Mook, O R F ORF; Alders, M M; Bikker, H H; Lekanne Dit Deprez, R H RH; Christiaans, I I

Publication Date: 2019-06

Variant appearance in text: MYH7: 2002C>A; His668Asn

PubMed Link: 30847666

Variant Present in the following documents:

• 12471_2019_1250_MOESM2_ESM.xlsx, sheet 1

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Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics.

Journal Of Medical Genetics

Mook, Olaf R F OR; Haagmans, Martin A MA; Soucy, Jean-François JF; van de Meerakker, Judith B A JB; Baas, Frank F; Jakobs, Marja E ME; Hofman, Nynke N; Christiaans, Imke I; Lekanne Deprez, Ronald H RH; Mannens, Marcel M A M MM

Publication Date: 2013-09

Variant appearance in text: MYH7: 2002C>A; His668Asn

PubMed Link: 23785128

Variant Present in the following documents:

• Main text
• jmedgenet-2012-101231.pdf

View BVdb publication page