Dataset related to article: EXPANDING THE CLINICAL AND RADIOLOGICAL SPECTRUM OF LGMDR21: FUNCTIONAL VALIDATION OF A NOVEL POGLUT1 C.500G>C MUTATION IN PATIENTS FROM CENTRAL SARDINIA
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Raw sequencing data (FASTQ files) generated from targeted next-generation sequencing (NGS) of a custom multigene panel for congenital muscular dystrophies and inherited myopathies. The dataset includes paired-end sequencing reads obtained from genomic DNA samples of affected individuals and used for variant identification and molecular diagnosis
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Zenodo创建时间:
2026-07-27



