Varaico: Literature-Extracted Genetic Variants

Gene:PNLIP
Variant:p.R188C
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PNLIP

NM_000936.4:p.R188C

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

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

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."