Varaico: Literature-Extracted Genetic Variants

Gene:HERC2
Variant:p.R2129C
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HERC2

NM_004667.6:p.R2129C

Associated Papers

Complex Autism Spectrum Disorder with Epilepsy, Strabismus and Self-Injurious Behaviors in a Patient with a De Novo Heterozygous POLR2A Variant.

Evans DR et al.

Genes, 2022

35328024 (PubMed )
Supplement: genes-13-00470-s001.zip › genes-1594767-supplementary.pdf

Exome sequencing study of partial agenesis of the corpus callosum in men with developmental delay, epilepsy, and microcephaly.

Meloche J et al.

Molecular Genetics & Genomic Medicine, 2020

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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."