Varaico: Literature-Extracted Genetic Variants

Gene:PQBP1
Variant:p.Y65F
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PQBP1

NM_001032382.2:p.Y65F

Associated Papers

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

Yuan L et al.

Nature Communications, 2026

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."