Varaico: Literature-Extracted Genetic Variants

Gene:NLRP5
Variant:p.V429_R430delFs
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NLRP5

NM_153447.4:p.V429_R430delFs

Associated Papers

Identification of Novel SCMC Gene Variants Associated With Early Embryonic Arrest.

Zhang C et al.

Clinical Genetics, 2025

Novel mutations in NLRP5 and PATL2 cause female infertility characterized by primarily oocyte maturation abnormality and consequent early embryonic arrest.

Huang L et al.

Journal of Assisted Reproduction and Genetics, 2022

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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."