Varaico: Literature-Extracted Genetic Variants

Gene:ZCCHC8
Variant:p.E196K
Back to variants list

ZCCHC8

NM_017612.5:p.E196K

Associated Papers

The evolving genetic landscape of telomere biology disorder dyskeratosis congenita.

Tummala H et al.

Embo Molecular Medicine, 2024

ZCCHC8 p.P410A disrupts nucleocytoplasmic localization, promoting idiopathic pulmonary fibrosis and chronic obstructive pulmonary disease.

Wang CY et al.

Molecular Medicine (cambridge, Mass.), 2024

A new variant in the ZCCHC8 gene: diverse clinical phenotypes and expression in the lung.

Groen K et al.

Erj Open Research, 2024

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."