Varaico: Literature-Extracted Genetic Variants

Gene:ZNF408
Variant:p.C581_T592del12
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ZNF408

NM_024741.3:p.C581_T592del12

Associated Papers

ABCA6 Regulates Chondrogenesis and Inhibits Joint Degeneration via Orchestrated Cholesterol Efflux and Cellular Senescence.

Wang Y et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025

39823538 (PubMed )
Supplement: ADVS-12-2410414-s003.xlsx › Sheet1

A Survey of Multigenic Protein-Altering Variant Frequency in Familial Exudative Vitreo-Retinopathy (FEVR) Patients by Targeted Sequencing of Seven FEVR-Linked Genes.

Cicerone AP et al.

Genes, 2022

Corrigendum to "comparative exome sequencing reveals novel candidate genes for retinitis pigmentosa" [EBioMedicine 56(2020)102792] DOI: https://doi.org/10.1016/j.ebiom.2020.102792.

Yi Z et al.

Ebiomedicine, 2022

35248995 (PubMed )
Supplement: mmc1.pdf

Comparative exome sequencing reveals novel candidate genes for retinitis pigmentosa.

Yi Z et al.

Ebiomedicine, 2020

32454406 (PubMed )
Supplement: mmc1.pdf

Molecular Genetic Diagnosis of a Bethlem Myopathy Family with an Autosomal-Dominant COL6A1 Mutation, as Evidenced by Exome Sequencing.

Park HJ et al.

Journal of Clinical Neurology (seoul, Korea), 2015

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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."