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: CCT5: 1288G>A

PubMed Link: 36387164

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

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Altered Basal Autophagy Affects Extracellular Vesicle Release in Cells of Lagotto Romagnolo Dogs With a Variant ATG4D.

Veterinary Pathology

Syrjä, Pernilla P; Palviainen, Mari M; Jokinen, Tarja T; Kyöstilä, Kaisa K; Lohi, Hannes H; Roosje, Petra P; Anderegg, Linda L; Leeb, Tosso T; Sukura, Antti A; Eskelinen, Eeva-Liisa EL

Publication Date: 2020-11

Variant appearance in text: CCT5: 1288G>A; Ala430Thr

PubMed Link: 33016245

Variant Present in the following documents:

• Main text
• 10.1177_0300985820959243.pdf

View BVdb publication page