Varaico: Literature-Extracted Genetic Variants

Gene:NUP214
Variant:p.M1I
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NUP214

NM_005085.4:p.M1I

Associated Papers

DDX41 mutations in myeloid neoplasms are associated with male gender, TP53 mutations and high-risk disease.

Quesada AE et al.

American Journal of Hematology, 2019

Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene.

Støy J et al.

Reviews in Endocrine & Metabolic Disorders, 2010

Evaluation of oligonucleotide arrays for sequencing of the p53 gene in DNA from formalin-fixed, paraffin-embedded breast cancer specimens.

Cooper M et al.

Clinical Chemistry, 2004

The patient profile of individuals with Alpha-1 antitrypsine gene mutations at a referral center in Brazil.

Felisbino MB et al.

Jornal Brasileiro De Pneumologia : Publicacao Oficial Da Sociedade Brasileira De Pneumologia E Tisilogia, 0

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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."