Associated Papers
Novel POMT2 variants associated with limb-girdle muscular dystrophy R14: genetic, histological and functional studies.
Yang G et al.
Orphanet Journal of Rare Diseases, 2025
Clinical diagnosis of genetic disorders at both single-nucleotide and chromosomal levels based on BGISEQ-500 platform.
Liu Y et al.
Human Genome Variation, 2023
37217505 (PubMed )
Supplement: 41439_2023_238_MOESM1_ESM.xlsx › Sheet1
Clinical exome sequencing identifies novel compound heterozygous mutations of the POMT2 gene in patients with limb-girdle muscular dystrophy.
Zhao X et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2023
Phenotype and Genotype Study of Chinese POMT2-Related α-Dystroglycanopathy.
Chen XY et al.
Frontiers in Genetics, 2021
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