Varaico: Literature-Extracted Genetic Variants

Gene:RNASEH2C
Variant:p.R145H
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RNASEH2C

NM_032193.4:p.R145H

Associated Papers

Clinical and technical assessment of MedExome vs. NGS panels in patients with suspected genetic disorders in Southwestern Ontario.

Aref-Eshghi E et al.

Journal of Human Genetics, 2021

A Gain-of-Function Variant in Dopamine D2 Receptor and Progressive Chorea and Dystonia Phenotype.

van der Weijden MCM et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2021

33200438 (PubMed )
Supplement: MDS-36-729-s002.docx
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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."