Varaico: Literature-Extracted Genetic Variants

Gene:DICER1
Variant:p.D1699Splc
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DICER1

NM_177438.3:p.D1699Splc

Associated Papers

Intron Variant Cause DICER1 Syndrome With Pleuropulmonary Blastoma.

Tian R et al.

Human Mutation, 2025

DICER1 Variants in Pediatric and Young Adult Thyroid Nodules.

Mastnikova K et al.

Thyroid : Official Journal of the American Thyroid Association, 2024

DICER1-mutated rhabdomyosarcoma of the ovary with teratoid features.

Lethongsavarn V et al.

Genes, Chromosomes & Cancer, 2023

Spectrum of DICER1 Germline Pathogenic Variants in Ovarian Sertoli-Leydig Cell Tumor.

De Paolis E et al.

Journal of Clinical Medicine, 2021

DICER1-associated embryonal rhabdomyosarcoma and adenosarcoma of the gynecologic tract: Pathology, molecular genetics, and indications for molecular testing.

Apellaniz-Ruiz M et al.

Genes, Chromosomes & Cancer, 2021

DICER1 Syndrome: DICER1 Mutations in Rare Cancers.

Robertson JC et al.

Cancers, 2018

DICER1 Mutations Are Consistently Present in Moderately and Poorly Differentiated Sertoli-Leydig Cell Tumors.

de Kock L et al.

The American Journal of Surgical Pathology, 2017

Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma.

de Kock L et al.

British Journal of Cancer, 2017

Ovarian tumors related to intronic mutations in DICER1: a report from the international ovarian and testicular stromal tumor registry.

Schultz KA et al.

Familial Cancer, 2016

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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."