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: PC: 1123C>T

PubMed Link: 36387164

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

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Generation of Whole-Genome Sequencing Data for Comparing Primary and Castration-Resistant Prostate Cancer.

Genomics & Informatics

Park, Jong-Lyul JL; Kim, Seon-Kyu SK; Kim, Jeong-Hwan JH; Yun, Seok Joong SJ; Kim, Wun-Jae WJ; Kim, Won Tae WT; Jeong, Pildu P; Kang, Ho Won HW; Kim, Seon-Young SY

Publication Date: 2018-09

Variant appearance in text: PC: Q375X

PubMed Link: 30309206

Variant Present in the following documents:

• gi-2018-16-3-71.pdf
• gi-2018-16-3-71-suppl.pdf

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Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease.

Nature Genetics

Lu, Hao H; Galeano, Maria C Rondón MCR; Ott, Elisabeth E; Kaeslin, Geraldine G; Kausalya, P Jaya PJ; Kramer, Carina C; Ortiz-Brüchle, Nadina N; Hilger, Nadescha N; Metzis, Vicki V; Hiersche, Milan M; Tay, Shang Yew SY; Tunningley, Robert R; Vij, Shubha S; Courtney, Andrew D AD; Whittle, Belinda B; Wühl, Elke E; Vester, Udo U; Hartleben, Björn B; Neuber, Steffen S; Frank, Valeska V; Little, Melissa H MH; Epting, Daniel D; Papathanasiou, Peter P; Perkins, Andrew C AC; Wright, Graham D GD; Hunziker, Walter W; Gee, Heon Yung HY; Otto, Edgar A EA; Zerres, Klaus K; Hildebrandt, Friedhelm F; Roy, Sudipto S; Wicking, Carol C; Bergmann, Carsten C

Publication Date: 2017-07

Variant appearance in text: PC: 1123C>T; Gln375*

PubMed Link: 28530676

Variant Present in the following documents:

• Main text

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