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Homozygosity by descent of the Pakistani families and shared haplotype region for RQMR10 and ATM02. The homozygous-by-descent regions segregating with the phenotype within families RQMR10, ATM02 and ANMR51 are indicated with a dark blue, a green and a purple bar, respectively. The red bar indicates the region of shared haplotype for families RQMR10 and ATM02 and spans the entire VPS13B
