The missense mutation Y65C in PQBP1 causes microcephaly and cognitive deficits through a combination of partial loss-of-function and gain-of-function effects

Journal:
Nature Communications
Published:
DOI:
10.1038/s41467-025-68202-5
Affiliations:
4
Authors:
8
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Institutions Authors Share
Southeast University (SEU), China
6.333333
 0.79
The Hong Kong University of Science and Technology (HKUST), China
1.000000
 0.13
Zhongda Hospital, SEU, China
0.333333
 0.04
Nantong University (NTU), China
0.333333
 0.04
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