Germline de novo variant F747S extends the phenotypic spectrum of<i>CACNA1D</i>Ca2+ channelopathies

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Authors: Ferenc Török, Kamer Tezcan, Ludovica Filippini, Monica L Fernández-Quintero, Lucia Zanetti, Klaus R Liedl, Raphaela S Drexel, Jörg Striessnig, Nadine J Ortner

Journal title: Human Molecular Genetics

Journal number: 32

Journal publisher: Oxford University Press

Published year: 2023

Published pages: 847-859

DOI identifier: 10.1093/hmg/ddac248

ISSN: 0964-6906