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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PTPN22

Variant:p.D195H

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PTPN22

NM_015967.8:p.D195H

hg38:chr1:113855007 C>G

Associated Papers

Molecular modelling and dynamics of CA2 missense mutations causative to carbonic anhydrase 2 deficiency syndrome.

Shaik NA et al.

Journal of Biomolecular Structure & Dynamics, 2020

31542996 (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."