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1
Q52580775-076513FD-93E4-48D0-A6BA-BD8671740CBB
Q52580775-076513FD-93E4-48D0-A6BA-BD8671740CBB
BestRank
Statement
http://www.wikidata.org/entity/statement/Q52580775-076513FD-93E4-48D0-A6BA-BD8671740CBB
The N1317H substitution associated with Leber congenital amaurosis results in impaired interdomain packing in human CRB1 epidermal growth factor-like (EGF) domains.
P2860
Q52580775-076513FD-93E4-48D0-A6BA-BD8671740CBB
BestRank
Statement
http://www.wikidata.org/entity/statement/Q52580775-076513FD-93E4-48D0-A6BA-BD8671740CBB
rank
NormalRank
type
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Statement
wasDerivedFrom
e8a6692228483fb48eec0cb976067558740d2c1a
P2860
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene