Varaico: Literature-Extracted Genetic Variants

Gene:ZNF469
Variant:p.A566V
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ZNF469

NM_001367624.2:p.A566V

Associated Papers

Distinct Genetically Determined Origins of Myd88/BCL2-Driven Aggressive Lymphoma Rationalize Targeted Therapeutic Intervention Strategies.

Flümann R et al.

Blood Cancer Discovery, 2023

36346827 (PubMed )
Supplement: bcd-22-0007_table_s6_suppst6.xlsx › D_Mut_Pat.__3

Metastatic and recurrent adrenocortical cancer is not defined by its genomic landscape.

Fojo T et al.

Bmc Medical Genomics, 2020

33148256 (PubMed )
Supplement: 12920_2020_809_MOESM2_ESM.xlsx › Supplemental_Table_1__part_1_

Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.

Hildebrandt MR et al.

Stem Cell Reports, 2019

31813827 (PubMed )
Supplement: mmc3.xlsx › SNVs

Rare, Potentially Pathogenic Variants in ZNF469 Are Not Enriched in Keratoconus in a Large Australian Cohort of European Descent.

Lucas SEM et al.

Investigative Ophthalmology & Visual Science, 2017

Brittle cornea syndrome ZNF469 mutation carrier phenotype and segregation analysis of rare ZNF469 variants in familial keratoconus.

Davidson AE et al.

Investigative Ophthalmology & Visual Science, 2015

A probabilistic model to predict clinical phenotypic traits from genome sequencing.

Chen YC et al.

Plos Computational Biology, 2014

25188385 (PubMed )
Supplement: pcbi.1003825.s014.xlsx › TableS12

Mutations in the zinc finger protein gene, ZNF469, contribute to the pathogenesis of keratoconus.

Vincent AL et al.

Investigative Ophthalmology & Visual Science, 2014

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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."