A homozygous variant disrupting the PIGH...

Human Mutation 2018 / 03

A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly

Pagnamenta, Alistair T., Murakami, Yoshiko, Anzilotti, Consuelo, Titheradge, Hannah, Oates, Adam J., Morton, Jenny, Kinoshita, Taroh, Kini, Usha, Taylor, Jenny C.
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Language:
english
Journal:
Human Mutation
DOI:
10.1002/humu.23420
Date:
March, 2018
File:
PDF, 561 KB
english, 2018
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