Varaico: Literature-Extracted Genetic Variants

Gene:NLRP5
Variant:p.L640R
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NLRP5

NM_153447.4:p.L640R

Associated Papers

Genetic landscape of human oocyte/embryo defects.

Chen B et al.

Cell Genomics, 2026

41005306 (PubMed )
Supplement: mmc3.xlsx › Table_S2

The maternal protein NLRP5 stabilizes UHRF1 in the cytoplasm: implication for the pathogenesis of multilocus imprinting disturbance.

Unoki M et al.

Human Molecular Genetics, 2024

38868925 (PubMed )
Supplement: sup_info_hmg_unoki_060424_ddae096.pdf

Structural basis of the subcortical maternal complex and its implications in reproductive disorders.

Chi P et al.

Nature Structural & Molecular Biology, 2024

38177687 (PubMed )
Supplement: 41594_2023_1153_MOESM3_ESM.xlsx › Table_S1

Biallelic Recessive Mutations in TLE6 and NLRP5 Cause Female Infertility Characterized by Human Early Embryonic Arrest.

Li R et al.

Human Mutation, 2024

Exonic genetic variants associated with unexpected fertilization failure and zygotic arrest after ICSI: a systematic review.

Torra-Massana M et al.

Zygote (cambridge, England), 2023

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

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

Xue Y et al.

Frontiers in Endocrinology, 2022

A new NLRP5 mutation causes female infertility and total fertilization failure.

Li M et al.

Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2021

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