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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ERBIN

Variant:p.R1194H

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ERBIN

NM_001253697.2:p.R1194H

hg38:chr5:66054899 G>A

Associated Papers

Germline TET2 loss of function causes childhood immunodeficiency and lymphoma.

Stremenova Spegarova J et al.

Blood, 2020

32518946 (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."