Publications:

TP53 germline mutations in the context of families with hereditary breast and ovarian cancer: a clinical challenge.

Archives Of Gynecology And Obstetrics

Grill, Sabine S; Ramser, Juliane J; Hellebrand, Heide H; Pfarr, Nicole N; Boxberg, Melanie M; Brambs, Christine C; Ditsch, Nina N; Meindl, Alfons A; Groß, Eva E; Meitinger, Thomas T; Kiechle, Marion M; Quante, Anne S AS

Publication Date: 2021-06

Variant appearance in text: TP53: Glu221Glu

PubMed Link: 33245408

Variant Present in the following documents:

• Main text
• 404_2020_5883_MOESM1_ESM.pdf
• 404_2020_Article_5883.pdf

View BVdb publication page

TP53 germline mutations in the context of families with hereditary breast and ovarian cancer: a clinical challenge.

Archives Of Gynecology And Obstetrics

Grill, Sabine S; Ramser, Juliane J; Hellebrand, Heide H; Pfarr, Nicole N; Boxberg, Melanie M; Brambs, Christine C; Ditsch, Nina N; Meindl, Alfons A; Groß, Eva E; Meitinger, Thomas T; Kiechle, Marion M; Quante, Anne S AS

Publication Date: 2021-06

Variant appearance in text: TP53: Glu221Glu

PubMed Link: 33245408

Variant Present in the following documents:

• Main text
• 404_2020_5883_MOESM1_ESM.pdf
• 404_2020_Article_5883.pdf

View BVdb publication page

From uncertainty to pathogenicity: clinical and functional interrogation of a rare TP53 in-frame deletion.

Cold Spring Harbor Molecular Case Studies

Quinn, Emily A EA; Maciaszek, Jamie L JL; Pinto, Emilia M EM; Phillips, Aaron H AH; Berdy, David D; Khandwala, Mohammad M; Upadhyaya, Santhosh A SA; Zambetti, Gerard P GP; Kriwacki, Richard W RW; Ellison, David W DW; Nichols, Kim E KE; Kesserwan, Chimene C

Publication Date: 2019-08

Variant appearance in text: TP53: 663G>A; Glu221=

PubMed Link: 30886117

Variant Present in the following documents:

• supp_mcs.a003921_Supplemental_Table_1a.xlsx, sheet 1

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Germ-line and somatic EPHA2 coding variants in lens aging and cataract.

Plos One

Bennett, Thomas M TM; M'Hamdi, Oussama O; Hejtmancik, J Fielding JF; Shiels, Alan A

Publication Date: 2017

Variant appearance in text: TP53: E221E

PubMed Link: 29267365

Variant Present in the following documents:

• pone.0189881.s008.xlsx, sheet 1

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Selective and strain-specific NFAT4 activation by the Toxoplasma gondii polymorphic dense granule protein GRA6.

The Journal Of Experimental Medicine

Ma, Ji Su JS; Sasai, Miwa M; Ohshima, Jun J; Lee, Youngae Y; Bando, Hironori H; Takeda, Kiyoshi K; Yamamoto, Masahiro M

Publication Date: 2014-09-22

Variant appearance in text: p53: E221E

PubMed Link: 25225460

Variant Present in the following documents:

• Main text
• JEM_20131272.pdf

View BVdb publication page