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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ANK1

Variant:p.S665*

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ANK1

NM_001142446.2:p.S665*

hg38:chr8:41708881 G>T

Associated Papers

Identification and functional analysis of novel SPTB and ANK1 mutations in hereditary spherocytosis patients.

Panarach C et al.

Scientific Reports, 2024

39521890 (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."