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Mario Torrado

1PUBLICATIONS
3CO-AUTHORS
Neurology and neuromuscular diseases
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Publications (1)

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|Mar 05, 2021
A cryptic splice-altering KCNQ1 variant in trans with R259L leading to Jervell and Lange-Nielsen syndrome.

Mario Torrado, Germán Fernández, Christian A Ganoza

Pageof 1

Frequent Collaborators

1 joint publications

Christian A Ganoza

1 joint publications

Emilia Maneiro

1 joint publications

Natalia Sonicheva-Paterson

Frequent Collaborators

1 joint publications

Christian A Ganoza

1 joint publications

Emilia Maneiro

1 joint publications

Natalia Sonicheva-Paterson

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