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Q36946603-D44CABF6-EAE6-4476-8644-4BECE4BC916B
Q36946603-D44CABF6-EAE6-4476-8644-4BECE4BC916B
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Statement
http://www.wikidata.org/entity/statement/Q36946603-D44CABF6-EAE6-4476-8644-4BECE4BC916B
Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform
P2860
Q36946603-D44CABF6-EAE6-4476-8644-4BECE4BC916B
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36946603-D44CABF6-EAE6-4476-8644-4BECE4BC916B
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wasDerivedFrom
c2431df54a730804ee7bd02527a069b9d0fc4299
P2860
Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.