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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ANK1

Variant:p.Q142_K143Splc

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ANK1

NM_001142446.2:p.Q142_K143Splc

hg38:chr8:41727349 C>A

Associated Papers

Clinical and genetic diagnosis of thirteen Japanese patients with hereditary spherocytosis.

Yamamoto KS et al.

Human Genome Variation, 2022

35022413 (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."