Genomics

Dataset Information

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Identification of Two Novel Variants causing Limb-Girdle and Congenital Muscular Dystrophy


ABSTRACT: This study aims to identify the genetic variants underlying limb-girdle and congenital muscular dystrophy in clinically diagnosed patients. Genomic variant analysis was performed to support molecular diagnosis, improve genotype–phenotype correlation, and contribute to a better understanding of the clinical and genetic spectrum of muscular dystrophies.

INSTRUMENT(S): -

ORGANISM(S): Homo Sapiens

SUBMITTER: Kerman University of Medical Sciences 

PROVIDER: PRJEB106044 | EVA | 2025-12-27

REPOSITORIES: EVA

Dataset's files

Source:
Action DRS
capn3_p1.vcf.csi Other
capn3_p1.vcf.gz Vcf
capn3_p1.vcf.gz.csi Vcf
dnajb6_p2.vcf.csi Other
dnajb6_p2.vcf.gz Vcf
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