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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC4A1

Variant:p.S762N

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SLC4A1

NM_000342.4:p.S762N

hg38:chr17:44253144 C>T

Associated Papers

A single-center cohort study of patients with hereditary spherocytosis in Central Europe reveals a high frequency of novel disease-causing genotypes.

Kager L et al.

Hemasphere, 2024

38434532 (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."