Varaico: Literature-Extracted Genetic Variants

Gene:DICER1
Variant:p.A1818T
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DICER1

NM_177438.3:p.A1818T

Associated Papers

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

Cancer-associated mutations in DICER1 RNase IIIa and IIIb domains exert similar effects on miRNA biogenesis.

Vedanayagam J et al.

Nature Communications, 2019

31417090 (PubMed )
Supplement: 41467_2019_11610_MOESM5_ESM.xlsx › msk_clinical_2

DICER1 mutations in childhood cystic nephroma and its relationship to DICER1-renal sarcoma.

Doros LA et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2014

Biallelic DICER1 mutations occur in Wilms tumours.

Wu MK et al.

The Journal of Pathology, 2013

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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."