The missense mutation Y65C in PQBP1 causes microcephaly and cognitive deficits through a combination of partial loss-of-function and gain-of-function effects
L
Linjuan Yuan
S
Shanshan Cheng
X
Xian Liu
W
Wenhua Liu
(Department of Neurology, Wuhan First Hospital, Wuhan, China)
T
Ting Xie
(School of Chemistry, University of Bristol, Cantock’s Close, Bristol BS8 1TS, U.K.)
W
Wei Xie
Z
Zi Chao Zhang
J
Junhai Han
Article Details
Journal
Nature Communications
Volume / Issue
Vol. 17, Issue 1
Published
January 08, 2026
ISSN
2041-1723
Publisher
Nature Portfolio
Authors (8)
L
Linjuan Yuan
S
Shanshan Cheng
X
Xian Liu
W
Wenhua Liu
Department of Neurology, Wuhan First Hospital, Wuhan, China
T
Ting Xie
School of Chemistry, University of Bristol, Cantock’s Close, Bristol BS8 1TS, U.K.
W
Wei Xie
Z
Zi Chao Zhang
J
Junhai Han
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