Varaico: Literature-Extracted Genetic Variants

Gene:ZNF335
Variant:p.R1111H
Back to variants list

ZNF335

NM_022095.4:p.R1111H

Associated Papers

Biallelic ZNF335 mutations cause basal ganglia abnormality with progressive cerebral/cerebellar atrophy.

Caglayan AO et al.

Journal of Neurogenetics, 2021

Expanding the clinical spectrum of biallelic ZNF335 variants.

Stouffs K et al.

Clinical Genetics, 2018

Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation.

Yang YJ et al.

Cell, 2012

Compound heterozygous ZNF335 variants in a patient with microcephaly, refractory epilepsy, and severe developmental delay: A case report and literature review.

Yamoto K et al.

Congenital Anomalies, 0

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."