Fix inheritance mechanism#499
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I would hold off on making it 366 repeats because this is not a perfect motif and there is a separation between the left and right tract that is especially prominent in the expanded alleles. In order to determine the actual motuf count we would need to see the sequence. I'll look into it. |
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All evidence so far suggest AD, not AR; I am unusure where AR comes from. Also, the pathogenic min is too large given data from LaFlamme et al. had a proband with ~1100bp expansion or 366 repeats. This should be reflected in the lower threshold.