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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NOXA1

Variant:p.A344S

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NOXA1

NM_001256067.2:p.A344S

hg38:chr9:137433573 G>T

Associated Papers

Neonatal presentation of COG6-CDG with prominent skin phenotype.

Komlosi K et al.

Jimd Reports, 2020

32905044 (PubMed )

Supplement: JMD2-55-51-s001.xlsx › Tabelle1

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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."