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

Crossref DOI link: https://doi.org/10.1038/s41467-025-68202-5

Published Online: 2026-01-08

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Yuan, Linjuan

Cheng, Shanshan

Liu, Xian https://orcid.org/0009-0005-9606-714X
Liu, Wenhua

Xie, Ting

Xie, Wei https://orcid.org/0000-0002-9179-4787
Zhang, Zi Chao https://orcid.org/0000-0001-5769-948X
Han, Junhai https://orcid.org/0000-0001-8941-2578
Funding

Funding for this research was provided by:

Ministry of Science and Technology of the People's Republic of China (2021ZD0202500)

National Natural Science Foundation of China (32530041)

National Natural Science Foundation of China (31800862)

National Natural Science Foundation of China (82071266)
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Text and Data Mining valid from 2026-01-08

Version of Record valid from 2026-02-09
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Article History

Received: 14 April 2025

Accepted: 22 December 2025

First Online: 8 January 2026

Competing interests

: The authors declare no competing interests.

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