Varaico: Literature-Extracted Genetic Variants

Gene:HP
Variant:p.D305N
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HP

NM_005143.5:p.D305N

Associated Papers

Severe phenotypic spectrum of biallelic mutations in PRRT2 gene.

Delcourt M et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 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."