Varaico: Literature-Extracted Genetic Variants

Gene:NUP214
Variant:p.T192T
Back to variants list

NUP214

NM_005085.4:p.T192T

Associated Papers

Diagnostic Transitions of Cystic Fibrosis and CRMS Compared After 12 Years of Newborn Screening in California.

Sciortino S et al.

The Journal of Pediatrics, 2025

The Effect of Complex Alleles of the CFTR Gene on the Clinical Manifestations of Cystic Fibrosis and the Effectiveness of Targeted Therapy.

Krasnova M et al.

International Journal of Molecular Sciences, 2023

Cystic fibrosis conductance regulator, tumor necrosis factor, interferon alpha-10, interferon alpha-17, and interferon gamma genotyping as potential risk markers in pulmonary sarcoidosis pathogenesis in Greek patients.

Makrythanasis P et al.

Genetic Testing and Molecular Biomarkers, 2010

The p.Arg258Gly mutation in intracellular loop 2 of CFTR is associated with CFTR-related disorders.

Masvidal L et al.

Genetic Testing and Molecular Biomarkers, 2009

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."