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1
Q35578228-8754ECB3-D9C5-4045-96E4-3E2E9FA0536C
Q35578228-8754ECB3-D9C5-4045-96E4-3E2E9FA0536C
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35578228-8754ECB3-D9C5-4045-96E4-3E2E9FA0536C
An XRCC4 splice mutation associated with severe short stature, gonadal failure, and early-onset metabolic syndrome.
P2860
Q35578228-8754ECB3-D9C5-4045-96E4-3E2E9FA0536C
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35578228-8754ECB3-D9C5-4045-96E4-3E2E9FA0536C
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
8b0d632f267f741d192e8f2bcb9efea0e3210cbd
P2860
Familial short stature caused by haploinsufficiency of the insulin-like growth factor i receptor due to nonsense-mediated messenger ribonucleic acid decay.