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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EGLN2

Variant:p.Q328*

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EGLN2

NM_080732.4:p.Q328*

hg38:chr19:40807156 C>T

Associated Papers

Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypes.

Oftedal BE et al.

Iscience, 2023

37235056 (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."