Varaico: Literature-Extracted Genetic Variants

Gene:NLRP5
Variant:p.Y611fs
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NLRP5

NM_153447.4:p.Y611fs

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

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

Mutations in OOEP and NLRP5 identified in infertile patients with early embryonic arrest.

Tong X et al.

Human Mutation, 2022

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