Varaico: Literature-Extracted Genetic Variants

Gene:NUP214
Variant:p.M1T
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NUP214

NM_005085.4:p.M1T

Associated Papers

5' preS1 Mutations To Prevent Large Envelope Protein Expression from Hepatitis B Virus Genotype A or Genotype D Markedly Increase Polymerase-Envelope Fusion Protein.

Zhang J et al.

Journal of Virology, 2022

Association of predicted pathogenic mutations in mitochondrial ND genes with distant metastasis in NSCLC and colon cancer.

Koshikawa N et al.

Scientific Reports, 2017

An update on molecular genetics of Alkaptonuria (AKU).

Zatkova A

Journal of Inherited Metabolic Disease, 2011

Granulin mutations associated with frontotemporal lobar degeneration and related disorders: an update.

Gijselinck I et al.

Human Mutation, 2008

Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.

Andresen BS et al.

American Journal of Human Genetics, 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."