Bi-allelic Variants in the GPI Transamidase Subunit PIGK...

The American Journal of Human Genetics 2020 / 04 Vol. 106; Iss. 4

Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy

Nguyen, Thi Tuyet Mai, Murakami, Yoshiko, Mobilio, Sabrina, Niceta, Marcello, Zampino, Giuseppe, Philippe, Christophe, Moutton, Sébastien, Zaki, Maha S., James, Kiely N., Musaev, Damir, Mu, Weiyi, Ba
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Volume:
106
Journal:
The American Journal of Human Genetics
DOI:
10.1016/j.ajhg.2020.03.001
Date:
April, 2020
File:
PDF, 2.88 MB
2020
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