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LAMA2 variants found in the cohort. (A) SNV variants according to exon localization and protein domain. The number of dots represent the number of times this variant was found in the cohort. Black spots unveils the variants that originate premature termination codons (PTC): nonsense and out-of-frame. Yellow spots show splice-site variants and Green spots display missense and inframe changes. All variants are displayed in Table 1. (B) CNV variants represented as blue squares.
