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並前往https://plos.figshare.com/articles/dataset/ACMG_classification_of_prioritized_variants_in_patients_with_HIDS_/12842486/1

ACMG classification of prioritized variants in patients with HIDS.

A B C D E F G H 1 Patient Family Gene Chr:pos Variant SNPid Coding change ACMG... 2 P1 F1 MVK chr12:110013951 GT>G c.226+2delT PVS1... 3 P1 F1 MVK chr12:110034320 G>A rs28934897 c.1129G>A:p.V377I PS3, P...

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