Varaico: Literature-Extracted Genetic Variants

Gene:NLRP5
Variant:p.L371F
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NLRP5

NM_153447.4:p.L371F

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

ImprintSeq, a novel tool to interrogate DNA methylation at human imprinted regions and diagnose multilocus imprinting disturbance.

Ochoa E et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022

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