Genomics

Dataset Information

0

Hemizygous nonsense variant in the moesin gene (MSN) leads to a new autoimmune phenotype of Immunodeficiency 50


ABSTRACT: A hemizygous nonsense variant was identified in the moesin gene (MSN) using whole exome sequencing.

INSTRUMENT(S): -

ORGANISM(S): Homo Sapiens

SUBMITTER: Semmelweis University 

PROVIDER: PRJEB52893 | EVA | 2022-05-20

REPOSITORIES: EVA

Dataset's files

Source:
Action DRS
HUN1704.snps.vcf.csi Other
HUN1704.snps.vcf.gz Vcf
HUN1704.snps.vcf.gz.csi Vcf
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