Publications:

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Whole-exome sequencing in eccrine porocarcinoma indicates promising therapeutic strategies.

Cancer Gene Therapy

Denisova, Evgeniya E; Westphal, Dana D; Surowy, Harald M HM; Meier, Friedegund F; Hutter, Barbara B; Reifenberger, Julia J; Rütten, Arno A; Schulz, Alexander A; Sergon, Mildred M; Ziemer, Mirjana M; Brors, Benedikt B; Betz, Regina C RC; Redler, Silke S

Publication Date: 2022-06

Variant appearance in text: TP53: 139C>G

PubMed Link: 34045664

Variant Present in the following documents:

• 41417_2021_347_MOESM4_ESM.xls, sheet 10

View BVdb publication page

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Pannexin 2 Localizes at ER-Mitochondria Contact Sites.

Cancers

Le Vasseur, Maxence M; Chen, Vincent C VC; Huang, Kate K; Vogl, Wayne A WA; Naus, Christian C CC

Publication Date: 2019-03-11

Variant appearance in text: p53: p47a

PubMed Link: 30862038

Variant Present in the following documents:

• Main text
• cancers-11-00343.pdf

View BVdb publication page

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appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)

Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M

Publication Date: 2018-12-15

Variant appearance in text: TP53: 139C>G; Pro47Ala

PubMed Link: 29945233

Variant Present in the following documents:

• bty518_supplementary_data_s2.xlsx, sheet 8
• bty518_supplementary_data_s6.xlsx, sheet 8

View BVdb publication page

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BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.

Breast Cancer Research : Bcr

Weber-Lassalle, Nana N; Hauke, Jan J; Ramser, Juliane J; Richters, Lisa L; Groß, Eva E; Blümcke, Britta B; Gehrig, Andrea A; Kahlert, Anne-Karin AK; Müller, Clemens R CR; Hackmann, Karl K; Honisch, Ellen E; Weber-Lassalle, Konstantin K; Niederacher, Dieter D; Borde, Julika J; Thiele, Holger H; Ernst, Corinna C; Altmüller, Janine J; Neidhardt, Guido G; Nürnberg, Peter P; Klaschik, Kristina K; Schroeder, Christopher C; Platzer, Konrad K; Volk, Alexander E AE; Wang-Gohrke, Shan S; Just, Walter W; Auber, Bernd B; Kubisch, Christian C; Schmidt, Gunnar G; Horvath, Judit J; Wappenschmidt, Barbara B; Engel, Christoph C; Arnold, Norbert N; Dworniczak, Bernd B; Rhiem, Kerstin K; Meindl, Alfons A; Schmutzler, Rita K RK; Hahnen, Eric E

Publication Date: 2018-01-24

Variant appearance in text: TP53: 139C>G; Pro47Ala

PubMed Link: 29368626

Variant Present in the following documents:

• 13058_2018_935_MOESM1_ESM.pdf

View BVdb publication page

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: TP53: P47A

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s5.xls, sheet 1

View BVdb publication page

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Role of AP1 and Gadkin in the traffic of secretory endo-lysosomes.

Molecular Biology Of The Cell

Laulagnier, Karine K; Schieber, Nicole L NL; Maritzen, Tanja T; Haucke, Volker V; Parton, Robert G RG; Gruenberg, Jean J

Publication Date: 2011-06-15

Variant appearance in text: p53: p47A

PubMed Link: 21525240

Variant Present in the following documents:

• Main text
• 2068.pdf

View BVdb publication page

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