Varaico: Literature-Extracted Genetic Variants

Gene:ZNF469
Variant:p.R366S
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ZNF469

NM_001367624.2:p.R366S

Associated Papers

Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease.

Rubino E et al.

Alzheimer's Research & Therapy, 2025

39810256 (PubMed )
Supplement: 13195_2024_1661_MOESM2_ESM.xlsx › Suppl._Table_2

A very early diagnosis of Alstrӧm syndrome by next generation sequencing.

Gatticchi L et al.

Bmc Medical Genetics, 2020

32867697 (PubMed )
Supplement: 12881_2020_1110_MOESM2_ESM.xls › NGS277_S29011_Complete

Identification of a Novel ZNF469 Mutation in a Pakistani Family With Brittle Cornea Syndrome.

Micheal S et al.

Cornea, 2019

Somatic mutation driven codon transition bias in human cancer.

Son H et al.

Scientific Reports, 2017

29079855 (PubMed )
Supplement: 41598_2017_14543_MOESM1_ESM.pdf

Novel Zinc Finger Protein Gene 469 (ZNF469) Variants in Advanced Keratoconus.

Yildiz E et al.

Current Eye Research, 2017

Evidence against ZNF469 being causative for keratoconus in Polish patients.

Karolak JA et al.

Acta Ophthalmologica, 2016

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeIII
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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."