Published in
Cell Press, American Journal of Human Genetics, 4(106), p. 484-495, 2020
DOI: 10.1016/j.ajhg.2020.03.001
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Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy
Journal article published in 2020 by
Thi Tuyet Mai Nguyen,
Yoshiko Murakami,
Sabrina Mobilio,
Marcello Niceta,
Giuseppe Zampino,
Weiyi Mu,
Christophe Philippe 
,
Kristin Baranano,
Sébastien Moutton,
Jessica R. Nance,
Jill A. Rosenfeld,
Maha S. Zaki,
Nancy Braverman,
Andrea Ciolfi,
Kiely N. James
and other authors.
,
Kristin Baranano,
Sébastien Moutton,
Jessica R. Nance,
Jill A. Rosenfeld,
Maha S. Zaki,
Nancy Braverman,
Andrea Ciolfi,
Kiely N. James
and other authors.
This paper was not found in any repository, but could be made available legally by the author.
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