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Q46533645-D20112BA-0C5E-4081-9F40-8AB0015FE892
Q46533645-D20112BA-0C5E-4081-9F40-8AB0015FE892
BestRank
Statement
http://www.wikidata.org/entity/statement/Q46533645-D20112BA-0C5E-4081-9F40-8AB0015FE892
Netherton syndrome with extensive skin peeling and failure to thrive due to a homozygous frameshift mutation in SPINK5.
P2860
Q46533645-D20112BA-0C5E-4081-9F40-8AB0015FE892
BestRank
Statement
http://www.wikidata.org/entity/statement/Q46533645-D20112BA-0C5E-4081-9F40-8AB0015FE892
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wasDerivedFrom
34017b44ce61fd6eaac8a8176643a639f9cf37e0
P2860
Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families