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Q24613849-B60BAB1F-0BB1-47F2-8242-33123CFBADBD
Q24613849-B60BAB1F-0BB1-47F2-8242-33123CFBADBD
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24613849-B60BAB1F-0BB1-47F2-8242-33123CFBADBD
A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents
P2860
Q24613849-B60BAB1F-0BB1-47F2-8242-33123CFBADBD
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24613849-B60BAB1F-0BB1-47F2-8242-33123CFBADBD
rank
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Statement
wasDerivedFrom
ce08d6d55fbc7c8399d273a70fca358b718ecb05
P2860
Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders.