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The mentioned genes related to hereditary cancers show an extremely heterogeneous mutation spectrum, but although the alterations are scattered throughout the complete coding sequence, most of the identified mutations produce premature termination of protein translation [ 15, 16].
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The fibroadenoma MED12 mutation spectrum is nearly identical to that of previously reported MED12 lesions in uterine leiomyoma but not those of other tumors.
Realized mutation spectrum in different time windows.
We drew mutation spectrum barplot to present mutation spectrum of each sample.
We also conducted clustering analysis on mutation spectrum to draw mutation spectrum heatplot to observe the similarity and difference within tumor samples.
Conrad, D.F. et al. Mutation spectrum revealed by breakpoint sequencing of human germline CNVs.
Lee, W. et al. The mutation spectrum revealed by paired genome sequences from a lung cancer patient.
Blanchon, S. et al. Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia.
Extended Data Fig. 8 Distribution of somatic mutation spectrum in NF1-glioma.
On-target mutation spectrum in human ES cells induced to express sgRNA1-1, sgRNA2b2, sgRNA2b or sgRNA4.
Barragan, I. et al. Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa.
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