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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CYB561

Variant:p.H53Y

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CYB561

NM_001915.4:p.H53Y

hg38:chr17:63437391 G>A

Associated Papers

Congenital absence of norepinephrine due to CYB561 mutations.

Shibao CA et al.

Neurology, 2020

31822578 (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."