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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATAD3A

Variant:p.L93P

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ATAD3A

NM_001170535.3:p.L93P

hg38:chr1:1516084 T>C

Associated Papers

Genetic landscape of Romanian children with inborn errors of immunity via gene panels, exome, and genome sequencing.

Pantea CL et al.

Scientific Reports, 2025

40442269 (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."