Associated Papers
Identification of a novel heterozygous variant in the PEX26 gene in an infant: a case report.
Huang Y et al.
Translational Pediatrics, 2024
38323187 (PubMed )
Supplement: tp-13-01-192-supplementary.pdf
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
29970176 (PubMed )
Supplement: 40246_2018_167_MOESM2_ESM.xlsx › individual
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1013.391
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