Varaico: Literature-Extracted Genetic Variants

Gene:ERVFRD-1
Variant:p.Q217insFs
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ERVFRD-1

NM_207582.3:p.Q217insFs

Associated Papers

PRRT2 mutations in a cohort of Chinese families with paroxysmal kinesigenic dyskinesia and genotype-phenotype correlation reanalysis in literatures.

Zhao G et al.

The International Journal of Neuroscience, 2018

Paroxysmal hypnogenic dyskinesia is associated with mutations in the PRRT2 gene.

Liu XR et al.

Neurology. Genetics, 2016

Mutations of proline-rich transmembrane protein-2 and paroxysmal kinesigenic dyskinesia in Taiwan.

Chen YC et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2013

Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations.

Mahdieh N et al.

Journal of Human Genetics, 2010

PRRT2 Gene Mutations in Indian Paroxysmal Kinesigenic Dyskinesia Patients.

Prabhakara S et al.

Annals of Indian Academy of Neurology, 0

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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."