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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TINF2

Variant:p.H257_F258del2

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TINF2

NM_001099274.3:p.H257_F258del2

hg38:chr14:24240705 TGAAGTG>T

Associated Papers

Novel TINF2 gene mutation in dyskeratosis congenita with extremely short telomeres: A case report.

Picos-Cárdenas VJ et al.

World Journal of Clinical Cases, 2022

36483815 (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."