Publications:

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Rickettsia felis DNA recovered from a child who lived in southern Africa 2000 years ago.

Communications Biology

Rifkin, Riaan F RF; Vikram, Surendra S; Alcorta, Jaime J; Ramond, Jean-Baptiste JB; Cowan, Don A DA; Jakobsson, Mattias M; Schlebusch, Carina M CM; Lombard, Marlize M

Publication Date: 2023-03-03

Variant appearance in text: GC: 1333C>T

PubMed Link: 36869137

Variant Present in the following documents:

• 42003_2023_4582_MOESM4_ESM.xlsx, sheet 10
• 42003_2023_4582_MOESM4_ESM.xlsx, sheet 8

View BVdb publication page

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: GC: 1333C>T

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics

Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2022-09

Variant appearance in text: GC: 1333C>T

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic variations in the human severe acute respiratory syndrome coronavirus receptor ACE2 and serine protease TMPRSS2.

Journal Of Clinical Pathology

Fujikura, Kohei K; Uesaka, Kazuma K

Publication Date: 2021-05

Variant appearance in text: GC: 1333C>T

PubMed Link: 32690544

Variant Present in the following documents:

• jclinpath-2020-206867supp005.xlsx, sheet 1

View BVdb publication page

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Whole genome sequencing of drug resistant Mycobacterium tuberculosis isolates from a high burden tuberculosis region of North West Pakistan.

Scientific Reports

Jabbar, Abdul A; Phelan, Jody E JE; de Sessions, Paola Florez PF; Khan, Taj Ali TA; Rahman, Hazir H; Khan, Sadiq Noor SN; Cantillon, Daire M DM; Wildner, Leticia Muraro LM; Ali, Sajid S; Campino, Susana S; Waddell, Simon J SJ; Clark, Taane G TG

Publication Date: 2019-10-18

Variant appearance in text: GC: His445Tyr

PubMed Link: 31628383

Variant Present in the following documents:

• 41598_2019_Article_51562.pdf

View BVdb publication page

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Mycobacterium tuberculosis whole genome sequencing and protein structure modelling provides insights into anti-tuberculosis drug resistance.

Bmc Medicine

Phelan, Jody J; Coll, Francesc F; McNerney, Ruth R; Ascher, David B DB; Pires, Douglas E V DE; Furnham, Nick N; Coeck, Nele N; Hill-Cawthorne, Grant A GA; Nair, Mridul B MB; Mallard, Kim K; Ramsay, Andrew A; Campino, Susana S; Hibberd, Martin L ML; Pain, Arnab A; Rigouts, Leen L; Clark, Taane G TG

Publication Date: 2016-03-23

Variant appearance in text: GC: H445Y

PubMed Link: 27005572

Variant Present in the following documents:

• Main text

View BVdb publication page

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: GC: 1333C>T

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2

View BVdb publication page

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A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget

Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2014-05-30

Variant appearance in text: GC: 1333C>T

PubMed Link: 24913145

Variant Present in the following documents:

• oncotarget-05-2912-s003.xlsx, sheet 1

View BVdb publication page

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Genetic associations with 25-hydroxyvitamin D deficiency in HIV-1-infected youth: fine-mapping for the GC/DBP gene that encodes the vitamin D-binding protein.

Frontiers In Genetics

Porter, Travis R TR; Li, Xuelin X; Stephensen, Charles B CB; Mulligan, Kathleen K; Rutledge, Brandy B; Flynn, Patricia M PM; Lujan-Zilbermann, Jorge J; Hazra, Rohan R; Wilson, Craig M CM; Havens, Peter L PL; Tang, Jianming J; ,

Publication Date: 2013

Variant appearance in text: rs3737553

PubMed Link: 24294218

Variant Present in the following documents:

• Main text
• fgene-04-00234.pdf

View BVdb publication page

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