Varaico: Literature-Extracted Genetic Variants

Gene:ZNF335
Variant:p.R1111H
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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

Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH).

Naveed M et al.

Genetics Research, 2018

Expanding the clinical spectrum of biallelic ZNF335 variants.

Stouffs K et al.

Clinical Genetics, 2018

Molecular genetics of human primary microcephaly: an overview.

Faheem M et al.

Bmc Medical Genomics, 2015

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

Yang YJ et al.

Cell, 2012

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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."