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Q34506328-2BF9CDE2-2A40-46BF-A884-6A40BD8EA0D2
Q34506328-2BF9CDE2-2A40-46BF-A884-6A40BD8EA0D2
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http://www.wikidata.org/entity/statement/Q34506328-2BF9CDE2-2A40-46BF-A884-6A40BD8EA0D2
Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome.
P2860
Q34506328-2BF9CDE2-2A40-46BF-A884-6A40BD8EA0D2
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34506328-2BF9CDE2-2A40-46BF-A884-6A40BD8EA0D2
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wasDerivedFrom
5b449ba1c5a42a673dd81623bb1f335404e13dc8
P2860
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy