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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCNN4

Variant:p.R228Splc

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KCNN4

NM_002250.3:p.R228Splc

hg38:chr19:43772218 A>G

Associated Papers

Two Variants of the ANK1 Gene Associated with Hereditary Spherocytosis.

Bogusławska DM et al.

Biomedicines, 2025

40002721 (PubMed )

Supplement: biomedicines-13-00308-s001.zip › biomedicines-3431635_Additional_file_2-xml.xlsx › AM_membranopathies

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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."