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Q30360273-75806C81-B041-4EB2-AC6A-28F58B970A29
Q30360273-75806C81-B041-4EB2-AC6A-28F58B970A29
BestRank
Statement
http://www.wikidata.org/entity/statement/Q30360273-75806C81-B041-4EB2-AC6A-28F58B970A29
A novel pore-region mutation, c.887G > A (p.G296D) in KCNQ4, causing hearing loss in a Chinese family with autosomal dominant non-syndromic deafness 2.
P2860
Q30360273-75806C81-B041-4EB2-AC6A-28F58B970A29
BestRank
Statement
http://www.wikidata.org/entity/statement/Q30360273-75806C81-B041-4EB2-AC6A-28F58B970A29
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
03194367f415490bd1f2c294513abfedd80a92ae
P2860
A novel frameshift mutation in KCNQ4 in a family with autosomal recessive non-syndromic hearing loss.