Publications:

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Models of Congenital Adrenal Hyperplasia for Gene Therapies Testing.

International Journal Of Molecular Sciences

Glazova, Olga O; Bastrich, Asya A; Deviatkin, Andrei A; Onyanov, Nikita N; Kaziakhmedova, Samira S; Shevkova, Liudmila L; Sakr, Nawar N; Petrova, Daria D; Vorontsova, Maria V MV; Volchkov, Pavel P

Publication Date: 2023-03-10

Variant appearance in text: CYP11A1: 940G>A; Glu314Lys

PubMed Link: 36982440

Variant Present in the following documents:

• ijms-24-05365.pdf

View BVdb publication page

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Adrenal Dysfunction in Mitochondrial Diseases.

International Journal Of Molecular Sciences

Corkery-Hayward, Madeleine M; Metherell, Louise A LA

Publication Date: 2023-01-06

Variant appearance in text: CYP11A1: Glu314Lys

PubMed Link: 36674647

Variant Present in the following documents:

• ijms-24-01126.pdf

View BVdb publication page

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Adrenal hyperplasias in childhood: An update.

Frontiers In Endocrinology

Pitsava, Georgia G; Stratakis, Constantine A CA

Publication Date: 2022

Variant appearance in text: CYP11A1: E314K

PubMed Link: 35992119

Variant Present in the following documents:

• fendo-13-937793.pdf

View BVdb publication page

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GCase Enhancers: A Potential Therapeutic Option for Gaucher Disease and Other Neurological Disorders.

Pharmaceuticals (Basel, Switzerland)

Martínez-Bailén, Macarena M; Clemente, Francesca F; Matassini, Camilla C; Cardona, Francesca F

Publication Date: 2022-07-02

Variant appearance in text: rs6161

PubMed Link: 35890122

Variant Present in the following documents:

• pharmaceuticals-15-00823.pdf

View BVdb publication page

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Identification of Small Regions of Overlap from Copy Number Variable Regions in Patients with Hypospadias.

International Journal Of Molecular Sciences

Scott, Carter H CH; Amarillo, Ina E IE

Publication Date: 2022-04-12

Variant appearance in text: CYP11A1: E314K

PubMed Link: 35457073

Variant Present in the following documents:

• ijms-23-04246.pdf

View BVdb publication page

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Can Digenic, Tri-Allelic Inheritance of Variants in STAR and CYP11A1 Give Rise to Primary Adrenal Insufficiency? A Case Report.

Frontiers In Endocrinology

Ali, Naseer N; Maharaj, Avinaash Vickram AV; Buonocore, Federica F; Achermann, John C JC; Metherell, Louise A LA

Publication Date: 2022

Variant appearance in text: CYP11A1: 940G>A; E314K; rs6161

PubMed Link: 35418949

Variant Present in the following documents:

• Main text
• fendo-13-860055.pdf

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: CYP11A1: E314K; rs6161

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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Atypical Presentation of Testicular Adrenal Rest Tumor (TART) Leading to Bilateral Partial Orchiectomy in a 31-Year-Old Adult Revealing Primary Adrenal Insufficiency with CYP11A1 Deficiency.

Case Reports In Endocrinology

Garcia, Cyril C; Dusaud, Marie M; Chiron, Paul P; Sollier, Mathilde M; Nassouri, Sika S; Groussin, Lionel L; Sibony, Mathilde M; Goursaud, Claire C; Roucher-Boulez, Florence F; Bordier, Lyse L

Publication Date: 2021

Variant appearance in text: CYP11A1: 940G>A; E314K

PubMed Link: 34976419

Variant Present in the following documents:

• CRIE2021-5889007.pdf

View BVdb publication page

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Morphologic and Molecular Characterization of Adrenals and Adrenal Rest Affected by Congenital Adrenal Hyperplasia.

Frontiers In Endocrinology

Kolli, Vipula V; da Cunha, Isabela Werneck IW; Kim, SunA S; Iben, James R JR; Mallappa, Ashwini A; Li, Tianwei T; Gaynor, Alison A; Coon, Steven L SL; Quezado, Martha M MM; Merke, Deborah P DP

Publication Date: 2021

Variant appearance in text: CYP11A1: E314K

PubMed Link: 34616364

Variant Present in the following documents:

• fendo-12-730947.pdf

View BVdb publication page

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Mutation of c.244G>T in NR5A1 gene causing 46, XY DSD by affecting RNA splicing.

Orphanet Journal Of Rare Diseases

Yu, Bingqing B; Gao, Yinjie Y; Mao, Jiangfeng J; Wang, Xi X; Nie, Min M; Wu, Xueyan X

Publication Date: 2021-08-30

Variant appearance in text: CYP11A1: Glu314Lys

PubMed Link: 34461970

Variant Present in the following documents:

• 13023_2021_Article_2002.pdf

View BVdb publication page

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Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK.

Journal Of The Endocrine Society

Buonocore, Federica F; Maharaj, Avinaash A; Qamar, Younus Y; Koehler, Katrin K; Suntharalingham, Jenifer P JP; Chan, Li F LF; Ferraz-de-Souza, Bruno B; Hughes, Claire R CR; Lin, Lin L; Prasad, Rathi R; Allgrove, Jeremy J; Andrews, Edward T ET; Buchanan, Charles R CR; Cheetham, Tim D TD; Crowne, Elizabeth C EC; Davies, Justin H JH; Gregory, John W JW; Hindmarsh, Peter C PC; Hulse, Tony T; Krone, Nils P NP; Shah, Pratik P; Shaikh, M Guftar MG; Roberts, Catherine C; Clayton, Peter E PE; Dattani, Mehul T MT; Thomas, N Simon NS; Huebner, Angela A; Clark, Adrian J AJ; Metherell, Louise A LA; Achermann, John C JC

Publication Date: 2021-08-01

Variant appearance in text: CYP11A1: 940G>A

PubMed Link: 34258490

Variant Present in the following documents:

• Main text
• bvab086.pdf

View BVdb publication page

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A SOX5 gene variant as a possible contributor to short stature.

Endocrinology, Diabetes & Metabolism Case Reports

Gkirgkinoudis, Athanasios A; Tatsi, Christina C; DeWard, Stephanie J SJ; Friedman, Bethany B; Faucz, Fabio R FR; Stratakis, Constantine A CA

Publication Date: 2020-12-29

Variant appearance in text: CYP11A1: 940G>A; E314K

PubMed Link: 33434147

Variant Present in the following documents:

• Main text
• EDM20-0133.pdf

View BVdb publication page

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Long-term outcome of partial P450 side-chain cleavage enzyme deficiency in three brothers: the importance of early diagnosis.

European Journal Of Endocrinology

Kallali, Wafa W; Gray, Ewan E; Mehdi, Muhammad Zain MZ; Lindsay, Robert R; Metherell, Louise A LA; Buonocore, Federica F; Suntharalingham, Jenifer P JP; Achermann, John C JC; Donaldson, Malcolm M

Publication Date: 2020-03

Variant appearance in text: CYP11A1: 940G>A; rs6161

PubMed Link: 31917682

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sonographic features of the testicular adrenal rests tumors in patients with congenital adrenal hyperplasia: a single-center experience and literature review.

Orphanet Journal Of Rare Diseases

Ma, Li L; Xia, Yu Y; Wang, Linlin L; Liu, Ruifeng R; Huang, Xuepei X; Ye, Tiantian T; Zhang, Li L; Zhu, Qingli Q; Li, Jianchu J; Jiang, Yuxin Y

Publication Date: 2019-11-06

Variant appearance in text: CYP11A1: E314K

PubMed Link: 31694673

Variant Present in the following documents:

• 13023_2019_Article_1231.pdf

View BVdb publication page

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Primary adrenal insufficiency: New genetic causes and their long-term consequences.

Clinical Endocrinology

Buonocore, Federica F; Achermann, John C JC

Publication Date: 2020-01

Variant appearance in text: CYP11A1: 940G>A; E314K; rs6161

PubMed Link: 31610036

Variant Present in the following documents:

• Main text
• CEN-92-11.pdf

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: CYP11A1: 940G>A; Glu314Lys; rs6161

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD).

Endocrine Connections

Hughes, L A LA; McKay-Bounford, K K; Webb, E A EA; Dasani, P P; Clokie, S S; Chandran, H H; McCarthy, L L; Mohamed, Z Z; Kirk, J M W JMW; Krone, N P NP; Allen, S S; Cole, T R P TRP

Publication Date: 2019-02

Variant appearance in text: CYP11A1: 940G>A; Glu314Lys

PubMed Link: 30668521

Variant Present in the following documents:

• Main text
• EC-18-0376.pdf

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: CYP11A1: E314K; rs6161

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing.

Journal Of The Endocrine Society

Maharaj, Avinaash A; Buonocore, Federica F; Meimaridou, Eirini E; Ruiz-Babot, Gerard G; Guasti, Leonardo L; Peng, Hwei-Ming HM; Capper, Cameron P CP; Burgos-Tirado, Neikelyn N; Prasad, Rathi R; Hughes, Claire R CR; Maudhoo, Ashwini A; Crowne, Elizabeth E; Cheetham, Timothy D TD; Brain, Caroline E CE; Suntharalingham, Jenifer P JP; Striglioni, Niccolò N; Yuksel, Bilgin B; Gurbuz, Fatih F; Gupta, Sangay S; Lindsay, Robert R; Couch, Robert R; Spoudeas, Helen A HA; Guran, Tulay T; Johnson, Stephanie S; Fowler, Dallas J DJ; Conwell, Louise S LS; McInerney-Leo, Aideen M AM; Drui, Delphine D; Cariou, Bertrand B; Lopez-Siguero, Juan P JP; Harris, Mark M; Duncan, Emma L EL; Hindmarsh, Peter C PC; Auchus, Richard J RJ; Donaldson, Malcolm D MD; Achermann, John C JC; Metherell, Louise A LA

Publication Date: 2019-01-01

Variant appearance in text: CYP11A1: 940G>A; E314K; rs6161

PubMed Link: 30620006

Variant Present in the following documents:

• Main text

View BVdb publication page

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Response to Letter to the Editor: "Characterization of the CYP11A1 Nonsynonymous Variant p.E314K in Children Presenting With Adrenal Insufficiency".

The Journal Of Clinical Endocrinology And Metabolism

Kolli, Vipula V; Lao, Qizong Q; Merke, Deborah P DP

Publication Date: 2019-05-01

Variant appearance in text: CYP11A1: E314K

PubMed Link: 30500909

Variant Present in the following documents:

• Main text

View BVdb publication page

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Characterization of the CYP11A1 Nonsynonymous Variant p.E314K in Children Presenting With Adrenal Insufficiency.

The Journal Of Clinical Endocrinology And Metabolism

Kolli, Vipula V; Kim, Hannah H; Torky, Ahmed A; Lao, Qizong Q; Tatsi, Christina C; Mallappa, Ashwini A; Merke, Deborah P DP

Publication Date: 2019-02-01

Variant appearance in text: CYP11A1: 940G>A; E314K; rs6161

PubMed Link: 30299480

Variant Present in the following documents:

• Main text

View BVdb publication page

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Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant in CYP11A1 Gene.

Frontiers In Endocrinology

Goursaud, Claire C; Mallet, Delphine D; Janin, Alexandre A; Menassa, Rita R; Tardy-Guidollet, Véronique V; Russo, Gianni G; Lienhardt-Roussie, Anne A; Lecointre, Claudine C; Plotton, Ingrid I; Morel, Yves Y; Roucher-Boulez, Florence F

Publication Date: 2018

Variant appearance in text: CYP11A1: 940G>A; Glu314Lys; rs6161

PubMed Link: 30233493

Variant Present in the following documents:

• Main text
• fendo-09-00491.pdf

View BVdb publication page

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Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells.

Cell Reports

Ruiz-Babot, Gerard G; Balyura, Mariya M; Hadjidemetriou, Irene I; Ajodha, Sharon J SJ; Taylor, David R DR; Ghataore, Lea L; Taylor, Norman F NF; Schubert, Undine U; Ziegler, Christian G CG; Storr, Helen L HL; Druce, Maralyn R MR; Gevers, Evelien F EF; Drake, William M WM; Srirangalingam, Umasuthan U; Conway, Gerard S GS; King, Peter J PJ; Metherell, Louise A LA; Bornstein, Stefan R SR; Guasti, Leonardo L

Publication Date: 2018-01-30

Variant appearance in text: CYP11A1: 940G>A; Glu314Lys

PubMed Link: 29386111

Variant Present in the following documents:

• Main text
• mmc3.pdf

View BVdb publication page

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Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.

Npj Genomic Medicine

Madubata, Chioma J CJ; Roshan-Ghias, Alireza A; Chu, Timothy T; Resnick, Samuel S; Zhao, Junfei J; Arnes, Luis L; Wang, Jiguang J; Rabadan, Raul R

Publication Date: 2017

Variant appearance in text: CYP11A1: E314K; rs6161

PubMed Link: 29263839

Variant Present in the following documents:

• 41525_2017_32_MOESM8_ESM.xlsx, sheet 6

View BVdb publication page

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A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency.

Molecular Genetics & Genomic Medicine

Lara-Velazquez, Montserrat M; Perdomo-Pantoja, Alexander A; Blackburn, Patrick R PR; Gass, Jennifer M JM; Caulfield, Thomas R TR; Atwal, Paldeep S PS

Publication Date: 2017-11

Variant appearance in text: CYP11A1: 940G>A

PubMed Link: 29178636

Variant Present in the following documents:

• Main text
• MGG3-5-781.pdf

View BVdb publication page

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Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene

Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D

Publication Date: 2017-01-05

Variant appearance in text: CYP11A1: E314K; rs6161

PubMed Link: 27270441

Variant Present in the following documents:

• onc2016172x3.xls, sheet 3

View BVdb publication page

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1,25D3 prevents CD8(+)Tc2 skewing and asthma development through VDR binding changes to the Cyp11a1 promoter.

Nature Communications

Schedel, Michaela M; Jia, Yi Y; Michel, Sven S; Takeda, Katsuyuki K; Domenico, Joanne J; Joetham, Anthony A; Ning, Fangkun F; Strand, Matthew M; Han, Junyan J; Wang, Meiqin M; Lucas, Joseph J JJ; Vogelberg, Christian C; Kabesch, Michael M; O'Connor, Brian P BP; Gelfand, Erwin W EW

Publication Date: 2016-01-11

Variant appearance in text: rs6161

PubMed Link: 26750596

Variant Present in the following documents:

• Main text
• ncomms10213.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs6161

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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: CYP11A1: 940G>A; E314K; rs6161

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_1.xlsx, sheet 1
• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2

View BVdb publication page

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Whole-Exome Sequencing in the Differential Diagnosis of Primary Adrenal Insufficiency in Children.

Frontiers In Endocrinology

Chan, Li F LF; Campbell, Daniel C DC; Novoselova, Tatiana V TV; Clark, Adrian J L AJ; Metherell, Louise A LA

Publication Date: 2015

Variant appearance in text: CYP11A1: E314K; rs6161

PubMed Link: 26300845

Variant Present in the following documents:

• Main text
• fendo-06-00113.pdf

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: CYP11A1: E314K

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

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Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.

Nature Communications

Witkiewicz, Agnieszka K AK; McMillan, Elizabeth A EA; Balaji, Uthra U; Baek, GuemHee G; Lin, Wan-Chi WC; Mansour, John J; Mollaee, Mehri M; Wagner, Kay-Uwe KU; Koduru, Prasad P; Yopp, Adam A; Choti, Michael A MA; Yeo, Charles J CJ; McCue, Peter P; White, Michael A MA; Knudsen, Erik S ES

Publication Date: 2015-04-09

Variant appearance in text: CYP11A1: E314K

PubMed Link: 25855536

Variant Present in the following documents:

• ncomms7744-s2.xlsx, sheet 1

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: CYP11A1: E314K; rs6161

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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De novo mutations in moderate or severe intellectual disability.

Plos Genetics

Hamdan, Fadi F FF; Srour, Myriam M; Capo-Chichi, Jose-Mario JM; Daoud, Hussein H; Nassif, Christina C; Patry, Lysanne L; Massicotte, Christine C; Ambalavanan, Amirthagowri A; Spiegelman, Dan D; Diallo, Ousmane O; Henrion, Edouard E; Dionne-Laporte, Alexandre A; Fougerat, Anne A; Pshezhetsky, Alexey V AV; Venkateswaran, Sunita S; Rouleau, Guy A GA; Michaud, Jacques L JL

Publication Date: 2014-10

Variant appearance in text: CYP11A1: E314K; rs6161

PubMed Link: 25356899

Variant Present in the following documents:

• pgen.1004772.s004.xlsx, sheet 38

View BVdb publication page

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: CYP11A1: E314K; rs6161

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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