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Q54514944-51FC2A65-79C8-448A-9834-A926AD55C8DD
Q54514944-51FC2A65-79C8-448A-9834-A926AD55C8DD
BestRank
Statement
http://www.wikidata.org/entity/statement/Q54514944-51FC2A65-79C8-448A-9834-A926AD55C8DD
A novel splice-site mutation in the AAGAB gene segregates with hereditary punctate palmoplantar keratoderma and congenital dysplasia of the hip in a large family.
P2860
Q54514944-51FC2A65-79C8-448A-9834-A926AD55C8DD
BestRank
Statement
http://www.wikidata.org/entity/statement/Q54514944-51FC2A65-79C8-448A-9834-A926AD55C8DD
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
a91e1fe57c8b7a7d615573202e19a825003e5c95
P2860
Loss-of-function mutation in AAGAB in Chinese families with punctuate palmoplantar keratoderma.