Varaico: Literature-Extracted Genetic Variants

Gene:PPAN
Variant:p.E274_I275Splc
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PPAN

NM_020230.7:p.E274_I275Splc

Associated Papers

Lack of the human choline transporter-like protein SLC44A2 causes hearing impairment and a rare red blood phenotype.

Koehl B et al.

Embo Molecular Medicine, 2023

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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."