Varaico: Literature-Extracted Genetic Variants

Gene:NLRP5
Variant:p.T281M
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NLRP5

NM_153447.4:p.T281M

Associated Papers

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

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

Eggermann T et al.

Clinical Epigenetics, 2022

Genetic and Transcriptional Contributions to Relapse in Normal Karyotype Acute Myeloid Leukemia.

Petti AA et al.

Blood Cancer Discovery, 2022

35019859 (PubMed )
Supplement: bcd-21-0050_supp.table_1_suppst1.xlsx › D_452198_exome._both_relapses

Somatic Mutational Profile of High-Grade Serous Ovarian Carcinoma and Triple-Negative Breast Carcinoma in Young and Elderly Patients: Similarities and Divergences.

Serio PAMP et al.

Cells, 2021

34944094 (PubMed )
Supplement: cells-10-03586-s001.zip › cells-1349475-supplementary › Supplementary_Tables.xlsx › Table_S4

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

Docherty LE et al.

Nature Communications, 2015

26323243 (PubMed )
Supplement: ncomms9086-s1.pdf
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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."