Varaico: Literature-Extracted Genetic Variants

Gene:ZCCHC8
Variant:p.L90*
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ZCCHC8

NM_017612.5:p.L90*

Associated Papers

Structural basis for RNA surveillance by the human nuclear exosome targeting (NEXT) complex.

Puno MR et al.

Cell, 2022

ZCCHC8, the nuclear exosome targeting component, is mutated in familial pulmonary fibrosis and is required for telomerase RNA maturation.

Gable DL et al.

Genes & Development, 2019

Genetics of recessive cognitive disorders.

Musante L et al.

Trends in Genetics : Tig, 2014

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

Najmabadi H et al.

Nature, 2011

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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."