Publications:

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Whole exome sequencing reveals novel variants associated with diminished ovarian reserve in young women.

Frontiers In Genetics

Li, Na N; Xu, Wanxue W; Liu, Huimin H; Zhou, Rui R; Zou, Siqi S; Wang, Shiqing S; Li, Siyu S; Yang, Zexin Z; Piao, Yongjun Y; Zhang, Yunshan Y

Publication Date: 2023

Variant appearance in text: LRP8: 71delT; Leu24fs

PubMed Link: 37065482

Variant Present in the following documents:

• Main text
• fgene-14-1154067.pdf

View BVdb publication page

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A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER

Publication Date: 2023-03-16

Variant appearance in text: LRP8: 71delT; L24Rfs*50

PubMed Link: 36928921

Variant Present in the following documents:

• ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3

View BVdb publication page

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Comprehensive Molecular Characterization of Soft Tissue Sarcoma for Prediction of Pazopanib-Based Treatment Response.

Cancer Research And Treatment

Hong, Jung Yong JY; Cho, Hee Jin HJ; Yun, Kum-Hee KH; Lee, Young Han YH; Kim, Seung Hyun SH; Baek, Wooyeol W; Kim, Sang Kyum SK; Lee, Yurimi Y; Choi, Yoon-La YL; Kwon, Minsuk M; Kim, Hyo Song HS; Lee, Jeeyun J

Publication Date: 2022-09-27

Variant appearance in text: LRP8: L24Rfs*50

PubMed Link: 36164943

Variant Present in the following documents:

• crt-2022-251-Supplementary-Table-2.xlsx, sheet 1

View BVdb publication page

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Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment.

Plos One

Mkaouar, Rahma R; Riahi, Zied Z; Charfeddine, Cherine C; Chelly, Imen I; Boudabbous, Hela H; Dallali, Hamza H; Bonnet, Crystel C; Hechmi, Meriem M; Bekri, Soumeya S; Zitouna, Nadia N; Zekri, Lotfi L; Tounsi, Amel A; Kefi, Rym R; Marrakchi, Jihene J; Messaoud, Olfa O; Kraoua, Ichraf I; Maalej, Sonia S; Turki Ben Youssef, Ilhem I; Ben Hmid, Ahlem A; Giraudet, Fabrice F; Bouchoucha, Sami S; Tebib, Neji N; Besbes, Ghazi G; Petit, Christine C; Mrad, Ridha R; Abdelhak, Sonia S; Trabelsi, Mediha M

Publication Date: 2021

Variant appearance in text: LRP8: 71delT; rs761955852

PubMed Link: 34614013

Variant Present in the following documents:

• pone.0258202.s003.xlsx, sheet 3

View BVdb publication page

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Contribution of a Novel B3GLCT Variant to Peters Plus Syndrome Discovered by a Combination of Next-Generation Sequencing and Automated Text Mining.

International Journal Of Molecular Sciences

Totoń-Żurańska, Justyna J; Kapusta, Przemysław P; Rybak-Krzyszkowska, Magda M; Lorenc, Katarzyna K; Machlowska, Julita J; Skalniak, Anna A; Filipek, Erita E; Pawlik, Dorota D; Wołkow, Paweł P PP

Publication Date: 2019-11-28

Variant appearance in text: LRP8: 71delT; rs761955852

PubMed Link: 31795264

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clonal replacement of tumor-specific T cells following PD-1 blockade.

Nature Medicine

Yost, Kathryn E KE; Satpathy, Ansuman T AT; Wells, Daniel K DK; Qi, Yanyan Y; Wang, Chunlin C; Kageyama, Robin R; McNamara, Katherine L KL; Granja, Jeffrey M JM; Sarin, Kavita Y KY; Brown, Ryanne A RA; Gupta, Rohit K RK; Curtis, Christina C; Bucktrout, Samantha L SL; Davis, Mark M MM; Chang, Anne Lynn S ALS; Chang, Howard Y HY

Publication Date: 2019-08

Variant appearance in text: LRP8: 71delT; L24fs

PubMed Link: 31359002

Variant Present in the following documents:

• NIHMS1531727-supplement-2.xlsx, sheet 2

View BVdb publication page

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X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports

Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN

Publication Date: 2018-11-02

Variant appearance in text: LRP8: 71delT; L24fs

PubMed Link: 30389958

Variant Present in the following documents:

• 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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