Varaico: Literature-Extracted Genetic Variants

Gene:PLEC
Variant:p.A2060V
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PLEC

NM_000445.5:p.A2060V

Associated Papers

Novel PLEC variants associated with infantile cholestasis.

Kor-Anantakul P et al.

Clinical Genetics, 2024

Plectin Mutations in Progressive Familial Intrahepatic Cholestasis.

Wu SH et al.

Hepatology (baltimore, Md.), 2019

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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."