Varaico: Literature-Extracted Genetic Variants

Gene:SPINK1
Variant:p.R65Splc
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SPINK1

NM_001379610.1:p.R65Splc

Associated Papers

Toward a clinical diagnostic pipeline for SPINK1 intronic variants.

Tang XY et al.

Human Genomics, 2019

Mechanisms of CFTR functional variants that impair regulated bicarbonate permeation and increase risk for pancreatitis but not for cystic fibrosis.

LaRusch J et al.

Plos Genetics, 2014

Identification of 12 novel RHD alleles in western France by denaturing high-performance liquid chromatography analysis.

Le Maréchal C et al.

Transfusion, 2007

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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."