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Q33722973-3584595B-74DA-4DFE-BBD6-29FB89D0255B
Q33722973-3584595B-74DA-4DFE-BBD6-29FB89D0255B
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Statement
http://www.wikidata.org/entity/statement/Q33722973-3584595B-74DA-4DFE-BBD6-29FB89D0255B
Phenotype-genotype correlation with Sanger sequencing identified retinol dehydrogenase 12 (RDH12) compound heterozygous variants in a Chinese family with Leber congenital amaurosis.
P2860
Q33722973-3584595B-74DA-4DFE-BBD6-29FB89D0255B
BestRank
Statement
http://www.wikidata.org/entity/statement/Q33722973-3584595B-74DA-4DFE-BBD6-29FB89D0255B
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wasDerivedFrom
b0294f0ee700c16395ccca7e513b0138c6df065f
P2860
Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa.