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PDGFRB and NOTCH3 Mutations are Detectable in a Wider Range of Pericytic Tumors, Including Myopericytomas, Angioleiomyomas, Glomus Tumors, and Their Combined Tumors

Ryuji Iwamura, Kazuki Komatsu, Midori Kusano, Chisachi Kubo, Yuna Inaba, Eisuke Shiba, Aya Nawata, Ryosuke Tajiri, Atsuji Matsuyama, Hisanori Matoba,

Modern Pathology · 2023 · 40 citations · 32 references

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32

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

P. Naresh Kumar, Steven Henikoff, Pauline C. Ng · Nature Protocols · 2009 · 6.7K citations

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A general framework for estimating the relative pathogenicity of human genetic variants

Martin Kircher, Daniela Witten, Preti Jain et al. · Nature Genetics · 2014 · 6.6K citations · Full text

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Predicting the Functional Effect of Amino Acid Substitutions and Indels

Yongwook Choi, Gregory E. Sims, Sean V. Murphy et al. · PLoS ONE · 2012 · 3K citations · Full text

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dbNSFP v4: a comprehensive database of transcript-specific functional predictions and annotations for human nonsynonymous and splice-site SNVs

Xiaoming Liu, Chang Li, Chengcheng Mou et al. · Genome Medicine · 2020 · 713 citations · Full text

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A spectral approach integrating functional genomic annotations for coding and noncoding variants

Iuliana Ionita‐Laza, K. J. McCallum, Bin Xu et al. · Nature Genetics · 2016 · 683 citations

, , +16