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Q28975748-9584EA6A-62B3-4025-81DA-63EB4A0020E3
Q28975748-9584EA6A-62B3-4025-81DA-63EB4A0020E3
BestRank
Statement
http://www.wikidata.org/entity/statement/Q28975748-9584EA6A-62B3-4025-81DA-63EB4A0020E3
Mutation in VPS33A affects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptoms
P2860
Q28975748-9584EA6A-62B3-4025-81DA-63EB4A0020E3
BestRank
Statement
http://www.wikidata.org/entity/statement/Q28975748-9584EA6A-62B3-4025-81DA-63EB4A0020E3
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wasDerivedFrom
849a37ab987bb4586ba1af4b771171870db817ca
P2860
Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect.