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Q50434575-A31194EC-735C-4A1A-A2F1-6A9FAF7CFBA7
Q50434575-A31194EC-735C-4A1A-A2F1-6A9FAF7CFBA7
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http://www.wikidata.org/entity/statement/Q50434575-A31194EC-735C-4A1A-A2F1-6A9FAF7CFBA7
Whole-exome sequencing identified compound heterozygous variants in MMKS in a Chinese pedigree with Bardet-Biedl syndrome.
P2860
Q50434575-A31194EC-735C-4A1A-A2F1-6A9FAF7CFBA7
BestRank
Statement
http://www.wikidata.org/entity/statement/Q50434575-A31194EC-735C-4A1A-A2F1-6A9FAF7CFBA7
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wasDerivedFrom
16043bbd2597c0e0b8ffcf8e84cf473c1fa0f4bc
P2860
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome