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The recessive form of the disease is caused primarily by null variants, although amino acid substitutions, splice junction variants, and missense variants have also been reported

In the original description no type was designated and the number of specimens on which the text was based in not stated

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Primary endpoints included adverse events, SARS-CoV-2 infection incidence in Cohort 1, and disease progressions in Cohort 2

[3] Certain inherited genetic syndromes, including Li-Fraumeni syndrome, inherited RB1 gene mutations, and Paget's disease of bone are associated with an increased risk of developing bone sarcomas

but its relation to my subject is only incidental, and I must pass it by with brief mention