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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TERF1

Variant:p.D22N

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TERF1

NM_017489.3:p.D22N

hg38:chr8:73008950 G>A

Associated Papers

Telomerase activity in T-cells as a functional test for pathogenicity assessment of novel genetic variants in telomere biology disorders.

Carlund O et al.

Scientific Reports, 2025

40781257 (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."