Varaico: Literature-Extracted Genetic Variants

Gene:CP
Variant:p.S261Splc
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CP

NM_000096.4:p.S261Splc

Associated Papers

Rapid diagnosis of Wilson disease by a 28-mutation panel: real-time amplification refractory mutation system in diagnosing acute Wilsonian liver failure.

Mak CM et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008

Diagnostic accuracy of serum ceruloplasmin in Wilson disease: determination of sensitivity and specificity by ROC curve analysis among ATP7B-genotyped subjects.

Mak CM et al.

Clinical Chemistry, 2008

Diagnosis of Wilson's disease: a comprehensive review.

Mak CM et al.

Critical Reviews in Clinical Laboratory Sciences, 2008

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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."