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The largest part of patients carry small COL5A1 pathogenic variants and the majority of these are null alleles (nonsense, frameshift, out-of-frame splice) leading to functional haploinsufficiency

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doi: 10.1161/CIRCRESAHA.107.164970 177

This may include the use of medications, therapy, and other supportive services to help alleviate any discomfort or difficulties associated with the withdrawal process