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Q33960818-1CED76D2-31EA-4B2E-B42C-28AC861E79AC
Q33960818-1CED76D2-31EA-4B2E-B42C-28AC861E79AC
BestRank
Statement
http://www.wikidata.org/entity/statement/Q33960818-1CED76D2-31EA-4B2E-B42C-28AC861E79AC
A-TWinnipeg: Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early-onset dystonia, cancer, and life-threatening radiotoxicity
P2860
Q33960818-1CED76D2-31EA-4B2E-B42C-28AC861E79AC
BestRank
Statement
http://www.wikidata.org/entity/statement/Q33960818-1CED76D2-31EA-4B2E-B42C-28AC861E79AC
rank
NormalRank
type
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Statement
wasDerivedFrom
4897b5024075a5681ae759221bc9c0732e5305e5
P2860
Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection.