Varaico: Literature-Extracted Genetic Variants

Gene:DICER1
Variant:p.D1713A
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DICER1

NM_177438.3:p.D1713A

Associated Papers

PRAME protein expression in DICER1-related tumours.

Thorner PS et al.

The Journal of Pathology. Clinical Research, 2022

PRAME protein expression in DICER1-related tumours.

Thorner PS et al.

The Journal of Pathology. Clinical Research, 2022

35297207 (PubMed )
Supplement: CJP2-8-294-s001.pdf

Highly Sensitive Detection Method of DICER1 Tumor Hotspot Mutations by Drop-off Droplet Digital PCR.

Vibert R et al.

Clinical Chemistry, 2022

A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1.

Pontén E et al.

Journal of Medical Genetics, 2022

33208384 (PubMed )
Supplement: jmedgenet-2020-107385supp002.pdf

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

de Kock L et al.

Human Mutation, 2019

Expanding the phenotype of mutations in DICER1: mosaic missense mutations in the RNase IIIb domain of DICER1 cause GLOW syndrome.

Klein S et al.

Journal of Medical Genetics, 2014

Biallelic DICER1 mutations occur in Wilms tumours.

Wu MK et al.

The Journal of Pathology, 2013

Homodimeric structure and double-stranded RNA cleavage activity of the C-terminal RNase III domain of human dicer.

Takeshita D et al.

Journal of Molecular Biology, 2007

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