Varaico: Literature-Extracted Genetic Variants

Gene:DICER1
Variant:p.E1788_L1789Splc
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DICER1

NM_177438.3:p.E1788_L1789Splc

Associated Papers

Two cases of primary supratentorial intracranial rhabdomyosarcoma with DICER1 mutation which may belong to a "spindle cell sarcoma with rhabdomyosarcoma-like feature, DICER1 mutant".

Sakaguchi M et al.

Brain Tumor Pathology, 2019

Primary intracranial sarcomas with DICER1 mutation often contain prominent eosinophilic cytoplasmic globules and can occur in the setting of neurofibromatosis type 1.

Lee JC et al.

Acta Neuropathologica, 2019

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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."