Varaico: Literature-Extracted Genetic Variants

Gene:PLCZ1
Variant:p.I527F
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PLCZ1

NM_033123.4:p.I527F

Associated Papers

Homozygous mutation of PLCZ1 leads to defective human oocyte activation and infertility that is not rescued by the WW-binding protein PAWP.

Escoffier J et al.

Human Molecular Genetics, 2016

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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."