Publications:

Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.

Frontiers In Oncology

Li, Yuping Y; Xie, Yupeng Y; Wang, Di D; Xu, Hanyan H; Ye, Junru J; Yin, Jiani C JC; Chen, Junjie J; Yan, Junrong J; Ye, Bin B; Chen, Chengshui C

Publication Date: 2022

Variant appearance in text: RB1: 1718T>C; I573T

PubMed Link: 36387164

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: RB1: I573T

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3

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Somatic alterations in brain tumors.

Oncology Reports

Barnholtz-Sloan, Jill J; Sloan, Andrew E AE; Land, Susan S; Kupsky, William W; Monteiro, Alvaro N A AN

Publication Date: 2008-07

Variant appearance in text: RB1: I573T

PubMed Link: 18575738

Variant Present in the following documents:

• Main text

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