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Q47879016-B69760E1-36B2-48E0-ADD8-C3B88AAE1C05
Q47879016-B69760E1-36B2-48E0-ADD8-C3B88AAE1C05
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http://www.wikidata.org/entity/statement/Q47879016-B69760E1-36B2-48E0-ADD8-C3B88AAE1C05
A compound synonymous mutation c.474G>A with p.Arg578X mutation in SPINK5 causes splicing disorder and mild phenotype in Netherton syndrome.
P2860
Q47879016-B69760E1-36B2-48E0-ADD8-C3B88AAE1C05
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47879016-B69760E1-36B2-48E0-ADD8-C3B88AAE1C05
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wasDerivedFrom
d47f56c4b66b4bcd2da3c04895eac2630f87f209
P2860
Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families