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Q34614928-1EA8BD8F-34F3-4F5F-B126-DF0542443B88
Q34614928-1EA8BD8F-34F3-4F5F-B126-DF0542443B88
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http://www.wikidata.org/entity/statement/Q34614928-1EA8BD8F-34F3-4F5F-B126-DF0542443B88
COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid.
P2860
Q34614928-1EA8BD8F-34F3-4F5F-B126-DF0542443B88
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34614928-1EA8BD8F-34F3-4F5F-B126-DF0542443B88
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538e582dee930a92bdd4009abc3874f7dc134810
P2860
Metaphyseal chondrodysplasia type Schmid mutations are predicted to occur in two distinct three-dimensional clusters within type X collagen NC1 domains that retain the ability to trimerize.