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Q47879016-00477F7D-0FA8-44CA-8F63-335D4EFECAD4
Q47879016-00477F7D-0FA8-44CA-8F63-335D4EFECAD4
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47879016-00477F7D-0FA8-44CA-8F63-335D4EFECAD4
A compound synonymous mutation c.474G>A with p.Arg578X mutation in SPINK5 causes splicing disorder and mild phenotype in Netherton syndrome.
P50
Q47879016-00477F7D-0FA8-44CA-8F63-335D4EFECAD4
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47879016-00477F7D-0FA8-44CA-8F63-335D4EFECAD4
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
c69e7b37f0bb54b0708b80e20473c4ed99ab0bbb
P1545
8
http://www.w3.org/2001/XMLSchema#string
P50
Giovanni Di Zenzo