Varaico: Literature-Extracted Genetic Variants

Gene:PDE6G
Variant:p.P28L
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PDE6G

NM_002602.4:p.P28L

Associated Papers

Protein modeling to assess the pathogenicity of rare variants of SERPINA1 in patients suspected of having Alpha 1 Antitrypsin Deficiency.

Kueppers F et al.

Bmc Medical Genetics, 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."