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Q46021860-8EBF3A52-0DA1-437C-9AEB-EA42F1F8B348
Q46021860-8EBF3A52-0DA1-437C-9AEB-EA42F1F8B348
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Statement
http://www.wikidata.org/entity/statement/Q46021860-8EBF3A52-0DA1-437C-9AEB-EA42F1F8B348
Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia.
P2860
Q46021860-8EBF3A52-0DA1-437C-9AEB-EA42F1F8B348
BestRank
Statement
http://www.wikidata.org/entity/statement/Q46021860-8EBF3A52-0DA1-437C-9AEB-EA42F1F8B348
rank
NormalRank
type
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Statement
wasDerivedFrom
2255a389fc123812b909c3453727a48734fbc851
P2860
SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders