Varaico: Literature-Extracted Genetic Variants

Gene:TERT
Variant:p.R37_L38delFs
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TERT

NM_198253.3:p.R37_L38delFs

Associated Papers

Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.

Jongmans MC et al.

American Journal of Human Genetics, 2012

Hemophagocytic lymphohistiocytosis as the initial manifestation of bone marrow failure in a child with a TERC variant telomere biology disorder.

Medina-Neira D et al.

Therapeutic Advances in Rare Disease, 0

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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."