Varaico: Literature-Extracted Genetic Variants

Gene:NLRP2
Variant:p.R493fs
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NLRP2

NM_017852.5:p.R493fs

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

Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance.

Cubellis MV et al.

Clinical Epigenetics, 2020

32928291 (PubMed )
Supplement: 13148_2020_925_MOESM8_ESM.xlsx › Foglio1_
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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."