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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PSMD2

Variant:p.A204A

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PSMD2

NM_002808.5:p.A204A

hg38:chr3:184301979 T>C

Associated Papers

Mutations in proteasome-related genes are associated with thyroid hemiagenesis.

Budny B et al.

Endocrine, 2017

28390009 (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."