Varaico: Literature-Extracted Genetic Variants

Gene:HDAC8
Variant:p.T119M
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HDAC8

NM_018486.3:p.T119M

Associated Papers

Publicly funded exome sequencing for outpatients with neurodevelopmental disorders demonstrates a high rate of unexpected findings impacting medical management.

Nakhleh Francis Y et al.

Genetics in Medicine Open, 2023

39669259 (PubMed )
Supplement: mmc1.xlsx › ______1

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.

Yuan B et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30158690 (PubMed )
Supplement: NIHMS973104-supplement-Table_S2.xlsx › Sheet1

Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.

Yuan B et al.

The Journal of Clinical Investigation, 2015

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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."