Publications:

Structural and signaling proteins in the Z-disk and their role in cardiomyopathies.

Frontiers In Physiology

Noureddine, Maya M; Gehmlich, Katja K

Publication Date: 2023

Variant appearance in text: TCAP: Cys57Trp

PubMed Link: 36935760

Variant Present in the following documents:

• Main text
• fphys-14-1143858.pdf

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: TCAP: C57W; rs369447207

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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The Role of Z-disc Proteins in Myopathy and Cardiomyopathy.

International Journal Of Molecular Sciences

Wadmore, Kirsty K; Azad, Amar J AJ; Gehmlich, Katja K

Publication Date: 2021-03-17

Variant appearance in text: TCAP: Cys57Trp

PubMed Link: 33802723

Variant Present in the following documents:

• Main text
• ijms-22-03058.pdf

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Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.

Plos One

Sanchez, Olallo O; Campuzano, Oscar O; Fernández-Falgueras, Anna A; Sarquella-Brugada, Georgia G; Cesar, Sergi S; Mademont, Irene I; Mates, Jesus J; Pérez-Serra, Alexandra A; Coll, Monica M; Pico, Ferran F; Iglesias, Anna A; Tirón, Coloma C; Allegue, Catarina C; Carro, Esther E; Gallego, María Ángeles MÁ; Ferrer-Costa, Carles C; Hospital, Anna A; Bardalet, Narcís N; Borondo, Juan Carlos JC; Vingut, Albert A; Arbelo, Elena E; Brugada, Josep J; Castellà, Josep J; Medallo, Jordi J; Brugada, Ramon R

Publication Date: 2016

Variant appearance in text: TCAP: 171C>G; C57W; rs369447207

PubMed Link: 27930701

Variant Present in the following documents:

• Main text
• pone.0167358.pdf

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