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Q58035104-EF60C46B-5B45-4753-8B60-639B2CE3A465
Q58035104-EF60C46B-5B45-4753-8B60-639B2CE3A465
BestRank
Statement
http://www.wikidata.org/entity/statement/Q58035104-EF60C46B-5B45-4753-8B60-639B2CE3A465
Recessive MED with auricular swelling due to compound heterozygosity Arg279Tpr/Thr512Lys in theSLC26A2gene
P2860
Q58035104-EF60C46B-5B45-4753-8B60-639B2CE3A465
BestRank
Statement
http://www.wikidata.org/entity/statement/Q58035104-EF60C46B-5B45-4753-8B60-639B2CE3A465
rank
NormalRank
type
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Statement
wasDerivedFrom
dec7057ed5079c0cd8d1ade5c8eb9678574d6d98
P2860
Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene--phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: case report