Varaico: Literature-Extracted Genetic Variants

Gene:PNLIP
Variant:p.W419*
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PNLIP

NM_000936.4:p.W419*

Associated Papers

Characterization of a PNLIP variant identified in Amish pediatric patients with congenital pancreatic lipase deficiency.

Curry GE et al.

Journal of Lipid Research, 2025

Arab founder variants: Contributions to clinical genomics and precision medicine.

AlAbdi L et al.

Med (new York, N.y.), 2025

Characterization of novel PNLIP variants in congenital pancreatic lipase deficiency.

Lin J et al.

Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2023

Identification of protease-sensitive but not misfolding PNLIP variants in familial and hereditary pancreatitis.

Masson E et al.

Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2023

Novel homozygous mutation of PNLIP gene in congenital pancreatic lipase deficiency: an extended family study.

Kamal NM et al.

Therapeutic Advances in Chronic Disease, 2022

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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."