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Haplotype analysis of variants within the p.D673V mutation-containing region at chromosome 5q31-q34
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The variants in patients (in red and also highlighted) are segregating with the disease phenotype within about two Mb from nt 147653792 to 149602425. Multiple variants in this regain are found to segregate with the patients’ phenotypes in the family. The disease-causing locus is shaded in orange, and the flanking cosegregated loci are shaded in yellow or gray.
