Varaico: Literature-Extracted Genetic Variants

Gene:ZNF81
Variant:p.A3V
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ZNF81

NM_007137.5:p.A3V

Associated Papers

X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face.

Harakalova M et al.

Journal of Medical Genetics, 2012

Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation.

Kleefstra T et al.

Journal of Medical Genetics, 2004

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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."