Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA1
Variant:p.N107I
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SERPINA1

NM_000295.5:p.N107I

Associated Papers

Mutation analysis of genes related to methylmalonic acidemia: identification of eight novel mutations.

Keyfi F et al.

Molecular Biology Reports, 2019

Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with galactosemia, including a novel mutation of F294Y. Mutation in brief no. 235. Online.

Seyrantepe V et al.

Human Mutation, 1999

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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."