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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PLAAT3

Variant:p.V50del1

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PLAAT3

NM_001128203.2:p.V50del1

hg38:chr11:63590336 TGAC>T

Associated Papers

Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA).

Schuermans N et al.

Orphanet Journal of Rare Diseases, 2022

35606766 (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."