Unexpected phenotypic variability in a family with epilepsy explained by independent segregation of biparental CACNA1A loss-of-function variants

Kraus C, Mammadova D, Leis T, Ekici AB, Thiel C, Reis A, Trollmann R (2020)

Publication Type: Conference contribution

Publication year: 2020

Journal

European Journal of Human Genetics Nature Publishing Group: Open Access Hybrid Model Option B

Publisher: SPRINGERNATURE

City/Town: LONDON

Pages Range: 325-325

Conference Proceedings Title: EUROPEAN JOURNAL OF HUMAN GENETICS

Authors with CRIS profile

Cornelia Kraus Institute of Human Genetics Dilbar Strack Department of Paediatrics and Adolescent Medicine Arif Bülent Ekici Institute of Human Genetics André Wiesmann da Silva Reis Lehrstuhl für Humangenetik Regina Trollmann Professur für Kinder- u. Jugendmedizin Schwerpunkt Neuropädiatrie

How to cite

APA:

Kraus, C., Mammadova, D., Leis, T., Ekici, A.B., Thiel, C., Reis, A., & Trollmann, R. (2020). Unexpected phenotypic variability in a family with epilepsy explained by independent segregation of biparental CACNA1A loss-of-function variants. In EUROPEAN JOURNAL OF HUMAN GENETICS (pp. 325-325). LONDON: SPRINGERNATURE.

MLA:

Kraus, Cornelia, et al. "Unexpected phenotypic variability in a family with epilepsy explained by independent segregation of biparental CACNA1A loss-of-function variants." Proceedings of the EUROPEAN JOURNAL OF HUMAN GENETICS LONDON: SPRINGERNATURE, 2020. 325-325.

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