Maroofian, R; Mazaheri, N; Zamani, M; Shariati, G; Sedaghat, A; Jamshidi, Y; Galehdari, H
(2019)
Identification of a novel homozygous loss-of-function variant in JPH2 in two unrelated families affected by lethal Neonatal hypertrophic cardiomyopathy.
In: 51st European Society of Human Genetics Conference, EUROPEAN JOURNAL OF HUMAN GENETICS, June 16-19th 2018, Milan.
SGUL Authors: Jamshidi, Yalda
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Official URL: https://doi.org/10.1038/s41431-019-0404-7
| Item Type: | Conference or Workshop Item (Poster) | ||||
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| Additional Information: | This is a post-peer-review, pre-copyedit version of an article published in European Journal of Human Genetics. The final authenticated version is available online at: http://dx.doi.org/10.1038/s41431-019-0404-7 | ||||
| Keywords: | 0604 Genetics, Genetics & Heredity | ||||
| SGUL Research Institute / Research Centre: | Academic Structure > Molecular and Clinical Sciences Research Institute (MCS) | ||||
| Journal or Publication Title: | EUROPEAN JOURNAL OF HUMAN GENETICS | ||||
| Article Number: | P05.43C | ||||
| ISSN: | 1018-4813 | ||||
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| Publisher License: | Publisher's own licence | ||||
| Web of Science ID: | WOS:000489313101094 | ||||
| URI: | https://openaccess.sgul.ac.uk/id/eprint/111322 |
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