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Q30009241-F4D9089D-4326-4CAF-A229-753E17D7FBE4
Q30009241-F4D9089D-4326-4CAF-A229-753E17D7FBE4
BestRank
Statement
http://www.wikidata.org/entity/statement/Q30009241-F4D9089D-4326-4CAF-A229-753E17D7FBE4
Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene
P2860
Q30009241-F4D9089D-4326-4CAF-A229-753E17D7FBE4
BestRank
Statement
http://www.wikidata.org/entity/statement/Q30009241-F4D9089D-4326-4CAF-A229-753E17D7FBE4
rank
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Statement
wasDerivedFrom
1178390dc3c186a7597bb178816e129f65757d91
P2860
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation