Varaico: Literature-Extracted Genetic Variants

Gene:ZNF292
Variant:p.E2054fs
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ZNF292

NM_015021.3:p.E2054fs

Associated Papers

Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis.

Tran Mau-Them F et al.

Frontiers in Genetics, 2023

Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability.

Brea-Fernández AJ et al.

European Journal of Human Genetics : Ejhg, 2022

Application of Next-Generation Sequencing for the Genomic Characterization of Patients with Smoldering Myeloma.

Manzoni M et al.

Cancers, 2020

32456143 (PubMed )
Supplement: cancers-12-01332-s001.pdf

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.

Mirzaa GM et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

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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."