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the remaining seven forms are uncharacterized in humans Bioavailability remains suboptimal, with oral administration largely ineffective due to enzymatic degradation
clEDS is caused by homozygous or compound heterozygous pathogenic variants in the TNXB gene, which leads to nonsense-mediated mRNA decay of TNXB and result in complete absence of TN-X or in misfolding of the protein8
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The region where the patient is located is also important because the diet of people in different regions is not consistent
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