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Article

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

Clinical genetics - 1 Aug 2025

Yalcin Zeynep, Gao Zheng, Abdelrazek Ibrahim M, Bareke Eric, Majewski Jacek, Abdalla Ebtesam, Tan Seang-Lin, Li Lei, Slim Rima

Abstract excerpt

Female infertility is a prevalent reproductive disorder with high genetic heterogeneity. Previous reports have demonstrated the causal role of biallelic pathogenic variants in the Subcortical Maternal Complex (SCMC) genes in female reproductive failure with some leading to infertility, early embryonic loss, and molar pregnancies, while others are compatible with live birth with and without multilocus imprinting...

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Share to Adaptor Proteins, Signal Transducing
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 39905760
DOI: 10.1111/cge.14718
PMCID: PMC12215214

Genes

NLRP2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Two Novel Protein-Truncating Variants in NLRP2 and Their Functional Impacts on the Subcortical Maternal Complex.PMID 39905760Read ↗

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