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Q34471758-2A947224-6C02-4608-A2B8-6857D75F903A
Q34471758-2A947224-6C02-4608-A2B8-6857D75F903A
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http://www.wikidata.org/entity/statement/Q34471758-2A947224-6C02-4608-A2B8-6857D75F903A
SERPINB11 frameshift variant associated with novel hoof specific phenotype in Connemara ponies.
P2860
Q34471758-2A947224-6C02-4608-A2B8-6857D75F903A
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34471758-2A947224-6C02-4608-A2B8-6857D75F903A
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wasDerivedFrom
11423b9cd398cee4bd389507877d4a3a9f046ed3
P2860
Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta