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Article

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

Journal of assisted reproduction and genetics - 1 Mar 2022

Huang Lingli, Wang Yu, Lu Fangting, Jin Qi, Song Gaojie, Ji Jingjuan, Luo Lihua, Jin Rentao, Tong Xianhong

Abstract excerpt

PURPOSE: This study aims to identify the genetic causes of 12 women with primary infertility characterized by primarily oocyte maturation abnormality and consequent early embryonic arrest. METHODS: Genomic DNA was isolated from peripheral blood samples. Whole-exome sequencing was performed on the probands, and the identified variants were confirmed by Sanger sequencing. The pathogenicity of the identified...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35091966
DOI: 10.1007/s10815-022-02412-4
PMCID: PMC8995404

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Novel mutations in NLRP5 and PATL2 cause female infertility characterized by primarily oocyte maturation abnormality and consequent early embryonic arrest.PMID 35091966Read ↗

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Novel PATL2 variants cause female infertility with oocyte maturation defect.Semantic proximity Read ↗

A novel homozygous mutation in the NLRP2 gene causes early embryonic arrest.Semantic proximity Read ↗

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Biallelic Recessive Mutations in TLE6 and NLRP5 Cause Female Infertility Characterized by Human Early Embryonic ArrestSemantic proximity Read ↗

Mutations in NLRP2 and NLRP5 cause female infertility characterised by early embryonic arrestSemantic proximity Read ↗

Identification of novel variants and expansion of the phenotypic spectrum in PATL2, WEE2, and TUBB8 associated with human early embryonic arrest.Semantic proximity Read ↗

Novel splicing mutations in PATL2 and WEE2 cause oocyte degradation and fertilization failure.Semantic proximity Read ↗

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Two Novel Protein-Truncating Variants in NLRP2 and Their Functional Impacts on the Subcortical Maternal Complex.Semantic proximity Read ↗

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