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Q44214645-EF876EEC-B5FB-402D-92CD-B724E94A19D1
Q44214645-EF876EEC-B5FB-402D-92CD-B724E94A19D1
BestRank
Statement
http://www.wikidata.org/entity/statement/Q44214645-EF876EEC-B5FB-402D-92CD-B724E94A19D1
Lethal Netherton syndrome due to homozygous p.Arg371X mutation in SPINK5.
P2860
Q44214645-EF876EEC-B5FB-402D-92CD-B724E94A19D1
BestRank
Statement
http://www.wikidata.org/entity/statement/Q44214645-EF876EEC-B5FB-402D-92CD-B724E94A19D1
rank
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type
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Statement
wasDerivedFrom
83841005b125f1d281d684c3c6dad03aaefb888e
P2860
Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families