Article

A Novel Variant of SMARCB1 in Rare Familial Schwannomatosis Identified by Whole-Exome Sequencing and Genotype-Phenotype Correlation Analysis.

2021-12-15

Abstract excerpt

<h4>Background: </h4> Variants in the tumor suppressor gene SMARCB1 could cause different conditions. In some cases, germline and somatic variants in SMARCB1 are implemented in schwannomatosis. But the genotype and phenotype correlation for variants in SMARCB1 has not been determined. <h4>Methods: </h4> A Chinese schwannomatosis family with an autosomal dominant inheritance pattern was recruited. Whole-exome seque...

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Literature Corpus work: ce6e0720-c766-5cf6-92a5-3cbbb7791478
DOI: 10.21203/rs.3.rs-1157679/v1

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