Varaico: Literature-Extracted Genetic Variants

Gene:ZNF469
Variant:p.A491T
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ZNF469

NM_001367624.2:p.A491T

Associated Papers

Genetic Screening Revealed Latent Keratoconus in Asymptomatic Individuals.

Chen S et al.

Frontiers in Cell and Developmental Biology, 2021

34136477 (PubMed )
Supplement: Data_Sheet_1.PDF

Clinical Manifestations of Alport Syndrome-Diffuse Leiomyomatosis Patients With Contiguous Gene Deletions in COL4A6 and COL4A5.

Zhou X et al.

Frontiers in Medicine, 2021

34778325 (PubMed )
Supplement: Data_Sheet_2.PDF

Whole-exome sequencing identifies germline mutation in TP53 and ATRX in a child with genomically aberrant AT/RT and her mother with anaplastic astrocytoma.

Nordfors K et al.

Cold Spring Harbor Molecular Case Studies, 2018

29602769 (PubMed )
Supplement: supp_mcs.a002246_Supplemental_Table_1.xlsx › Only_in_child

Identification of seven novel ZNF469 mutations in keratoconus patients in a Han Chinese population.

Yu X et al.

Molecular Vision, 2017

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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."