Varaico: Literature-Extracted Genetic Variants

Gene:PLCZ1
Variant:p.R553P
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PLCZ1

NM_033123.4:p.R553P

Associated Papers

Structural Implications of H233L and H398P Mutations in Phospholipase Cζ: A Full-Atom Molecular Dynamics Study on Infertility-Associated Dysfunctions.

Hinostroza F et al.

International Journal of Molecular Sciences, 2025

Novel PLCZ1 compound heterozygous mutations indicate gene dosage effect involved in total fertilisation failure after ICSI.

Li Q et al.

Reproduction (cambridge, England), 2024

Novel mutations in PLCZ1 lead to early embryonic arrest as a male factor.

Lin Y et al.

Frontiers in Cell and Developmental Biology, 2023

SPERM FACTORS AND EGG ACTIVATION: Phospholipase C zeta (PLCZ1) and the clinical diagnosis of oocyte activation deficiency.

Jones C et al.

Reproduction (cambridge, England), 2022

SPERM FACTORS AND EGG ACTIVATION: The structure and function relationship of sperm PLCZ1.

Thanassoulas A et al.

Reproduction (cambridge, England), 2022

Gene mutations associated with fertilization failure after in vitro fertilization/intracytoplasmic sperm injection.

Xue Y et al.

Frontiers in Endocrinology, 2022

A novel homozygous mutation of phospholipase C zeta leading to defective human oocyte activation and fertilization failure.

Yuan P et al.

Human Reproduction (oxford, England), 2020

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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."