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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HELZ2

Variant:p.E615K

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HELZ2

NM_033405.3:p.E615K

hg38:chr20:63565272 C>T

Associated Papers

Clinical and Molecular Heterogeneity of RTEL1 Deficiency.

Speckmann C et al.

Frontiers in Immunology, 2017

28507545 (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."