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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NAXE

Variant:p.P276fs

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NAXE

NM_144772.3:p.P276fs

hg38:chr1:156594043 CCA>N

Associated Papers

Transient response to high-dose niacin therapy in a patient with NAXE deficiency.

Al-Amrani F et al.

Jimd Reports, 2024

38974613 (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."