DGCR8 and the six hit, three-step model of schwannomatosis

Study ID Alternative Stable ID Type
EGAS00001005665 Other

Study Description

In our manuscript, we report the second case of a patient with peripheral schwannomatosis and thyroid alterations cause by the germline pathogenic variant E518K in DGCR8 and analyzed a total of 13 schwannomas from patients in the two kindreds identified up to date. Our analyses revealed how path to tumorigenesis prompted by DGCR8 requires the loss of the wild type allele of Chrm22q and in more than two thirds of the tumors a complete inactivation of NF2.

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
This dataset contains the exome sequencing data (BAMs, VCFs and CNVs) from 5 schwannoma tumors from the same patient.
Illumina NovaSeq 6000 5

Who archives the data?

There are no publications available