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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HPCA

Variant:p.E11fs

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HPCA

NM_002143.3:p.E11fs

hg38:chr1:32888929 GAG>N

Associated Papers

Childhood-Onset Choreo-Dystonia Due to a Recurrent Novel Homozygous Nonsense HPCA Variant: Case Series and Literature Review.

Magrinelli F et al.

Movement Disorders Clinical Practice, 2023

36698997 (PubMed )

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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."