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Inheritance of mutations predicted deleterious<sup>*</sup> by SIFT-or-PolyPhen2.

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NIAID Data Ecosystem2026-03-07 收录
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*deleterious mutations were defined as “damaging” in SIFT and/or “possibly damaging” or “probably damaging” in PolyPhen2, as well as all nonsense and splice site mutations which were not evaluated by these programs but were regarded as deleterious intrinsically. Inheritance was a situation where recurrent mutations were counted more than once, because keeping only one instance of a variant and ignoring the rest would introduce arbitrary parent-of-origin bias †CNTN6 and CNTNAP4 each had one mutation that was confirmed to be de novo in whole blood Inheritance of mutations predicted deleterious* by SIFT-or-PolyPhen2.

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2015-01-26
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