Varaico: Literature-Extracted Genetic Variants

Gene:DICER1
Variant:p.D1709H
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DICER1

NM_177438.3:p.D1709H

Associated Papers

Desmoid fibromatosis in a child with DICER1-related tumor predisposition.

Thorner PS et al.

Virchows Archiv : an International Journal of Pathology, 2025

DICER1 in pediatric and adult cancer predisposition populations: Prevalence, phenotypes, and mosaicism.

Salvador L et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

Extraskeletal chondroma of the toe in a child with DICER1 tumor predisposition syndrome: support for a dominant negative mechanism.

Pelletier D et al.

Virchows Archiv : an International Journal of Pathology, 2024

Ten years of DICER1 mutations: Provenance, distribution, and associated phenotypes.

de Kock L et al.

Human Mutation, 2019

DICER1 Syndrome: DICER1 Mutations in Rare Cancers.

Robertson JC et al.

Cancers, 2018

High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome.

de Kock L et al.

Journal of Medical Genetics, 2016

Temporal order of RNase IIIb and loss-of-function mutations during development determines phenotype in pleuropulmonary blastoma / DICER1 syndrome: a unique variant of the two-hit tumor suppression model.

Brenneman M et al.

F1000research, 2015

Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations.

de Kock L et al.

Acta Neuropathologica, 2014

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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."