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ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure.
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OligoPVP: Phenotype-driven analysis of individual genomic information to prioritize oligogenic disease variants.
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Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
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Human Genomics, 2018
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