Varaico: Literature-Extracted Genetic Variants

Gene:NLRP5
Variant:p.P386ins0
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NLRP5

NM_153447.4:p.P386ins0

Associated Papers

Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach.

Bilo L et al.

Clinical Epigenetics, 2023

36859312 (PubMed )
Supplement: 13148_2023_1453_MOESM1_ESM.xlsx › 7__WES_results

Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences.

Eggermann T et al.

Clinical Epigenetics, 2022

DNA Methylation Dynamics in the Female Germline and Maternal-Effect Mutations That Disrupt Genomic Imprinting.

Anvar Z et al.

Genes, 2021

Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans.

Docherty LE et al.

Nature Communications, 2015

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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."