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Q30360273-2BF16EC7-8401-465A-8261-7C220592B514
Q30360273-2BF16EC7-8401-465A-8261-7C220592B514
BestRank
Statement
http://www.wikidata.org/entity/statement/Q30360273-2BF16EC7-8401-465A-8261-7C220592B514
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
Q30360273-2BF16EC7-8401-465A-8261-7C220592B514
BestRank
Statement
http://www.wikidata.org/entity/statement/Q30360273-2BF16EC7-8401-465A-8261-7C220592B514
rank
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type
BestRank
Statement
wasDerivedFrom
18d40932fb5606cbf1d0f34f60dfe42919739c22
P2860
Phenotypic Heterogeneity in a DFNA20/26 family segregating a novel ACTG1 mutation.