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Q28485037-B3652603-75AD-45DD-A979-9B2E50525A79
Q28485037-B3652603-75AD-45DD-A979-9B2E50525A79
BestRank
Statement
http://www.wikidata.org/entity/statement/Q28485037-B3652603-75AD-45DD-A979-9B2E50525A79
Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome
P2860
Q28485037-B3652603-75AD-45DD-A979-9B2E50525A79
BestRank
Statement
http://www.wikidata.org/entity/statement/Q28485037-B3652603-75AD-45DD-A979-9B2E50525A79
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Statement
wasDerivedFrom
89124c7f11bf2315bf91b094859145f1f0177c10
P2860
Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling.