Varaico: Literature-Extracted Genetic Variants

Gene:NLRP4
Variant:p.A427T
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NLRP4

NM_134444.5:p.A427T

Associated Papers

Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances.

Pignata L et al.

Clinical Epigenetics, 2022

35643636 (PubMed )
Supplement: 13148_2022_1292_MOESM4_ESM.pdf
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