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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ARID3A

Variant:p.E48E

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ARID3A

NM_005224.3:p.E48E

hg38:chr19:929672 G>A

Associated Papers

Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center.

Rus CM et al.

Orphanet Journal of Rare Diseases, 2022

35505348 (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."