Publications:

Mutation update for the ACTN2 gene.

Human Mutation

Ranta-Aho, Johanna J; Olive, Montse M; Vandroux, Marie M; Roticiani, Giorgia G; Dominguez, Cristina C; Johari, Mridul M; Torella, Annalaura A; Böhm, Johann J; Turon, Janina J; Nigro, Vincenzo V; Hackman, Peter P; Laporte, Jocelyn J; Udd, Bjarne B; Savarese, Marco M

Publication Date: 2022-09-18

Variant appearance in text: SCN5A: 253C>T; Pro85Ser

PubMed Link: 36116040

Variant Present in the following documents:

• HUMU-43-1745-s002.xlsx, sheet 1

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs201658652

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

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High prevalence of genetic variants previously associated with LQT syndrome in new exome data.

European Journal Of Human Genetics : Ejhg

Refsgaard, Lena L; Holst, Anders G AG; Sadjadieh, Golnaz G; Haunsø, Stig S; Nielsen, Jonas B JB; Olesen, Morten S MS

Publication Date: 2012-08

Variant appearance in text: LQT3: 253C>T

PubMed Link: 22378279

Variant Present in the following documents:

• Main text

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