Varaico: Literature-Extracted Genetic Variants

Gene:ZNF462
Variant:p.Q1389*
Back to variants list

ZNF462

NM_021224.6:p.Q1389*

Associated Papers

Novel variants in ZNF462 and phenotype update in patients with Weiss-Kruszka syndrome: a case series.

Huai W et al.

Translational Pediatrics, 2025

40949918 (PubMed )
Supplement: tp-14-08-1991-supplementary.pdf

Clinical and Molecular Landscape of Weiss-Kruszka Syndrome: A Case Report and Literature Review.

Li L et al.

Journal of Clinical Research in Pediatric Endocrinology, 2025

A novel mutation in the ZNF462 gene c.3306dup; p.(Gln1103Thrfs*10) is associated to Weiss-Kruszka syndrome. A case report.

González-Tarancón R et al.

Acta Clinica Belgica, 2022

A Nonsense Variant of ZNF462 Gene Associated With Weiss-Kruszka Syndrome-Like Manifestations: A Case Study and Literature Review.

Zhao S et al.

Frontiers in Genetics, 2022

Case report: A heterozygous mutation in ZNF462 leads to growth hormone deficiency.

Zhou Y et al.

Frontiers in Genetics, 2022

Empty Sella Syndrome Associated with Growth Hormone Deficiency: the First Case Report of Weiss-Kruszka Syndrome.

Park J et al.

Journal of Korean Medical Science, 2021

Phenotype delineation of ZNF462 related syndrome.

Kruszka P et al.

American Journal of Medical Genetics. Part A, 2019

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."