Publications:

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Succinate dehydrogenase and MYC-associated factor X mutations in pituitary neuroendocrine tumours.

Endocrine-Related Cancer

Loughrey, Paul Benjamin PB; Roncaroli, Federico F; Healy, Estelle E; Weir, Philip P; Basetti, Madhu M; Casey, Ruth T RT; Hunter, Steven J SJ; Korbonits, Márta M

Publication Date: 2022-10-01

Variant appearance in text: SDHB: 587G>A; Cys196Tyr

PubMed Link: 35938916

Variant Present in the following documents:

• Main text
• ERC-22-0157.pdf

View BVdb publication page

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Are transient protein-protein interactions more dispensable?

Plos Computational Biology

Ghadie, Mohamed Ali MA; Xia, Yu Y

Publication Date: 2022-04

Variant appearance in text: SDHB: 587G>A; Cys196Tyr

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4

View BVdb publication page

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ACTH-secreting pituitary carcinoma with TP53, NF1, ATRX and PTEN mutations Case report and review of the literature.

Endocrine

Sumislawski, Piotr P; Rotermund, Roman R; Klose, Silke S; Lautenbach, Anne A; Wefers, Annika K AK; Soltwedel, Celina C; Mohammadi, Behnam B; Jacobsen, Frank F; Mawrin, Christian C; Flitsch, Jörg J; Saeger, Wolfgang W

Publication Date: 2022-04

Variant appearance in text: SDHB: 587G>A

PubMed Link: 35171439

Variant Present in the following documents:

• 12020_2021_Article_2954.pdf

View BVdb publication page

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Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Garrett, Alice A; Loveday, Chey C; King, Laura L; Butler, Samantha S; Robinson, Rachel R; Horton, Carrie C; Yussuf, Amal A; Choi, Subin S; Torr, Beth B; Durkie, Miranda M; Burghel, George J GJ; Drummond, James J; Berry, Ian I; Wallace, Andrew A; Callaway, Alison A; Eccles, Diana D; Tischkowitz, Marc M; Tatton-Brown, Katrina K; Snape, Katie K; McVeigh, Terri T; Izatt, Louise L; Woodward, Emma R ER; Burnichon, Nelly N; Gimenez-Roqueplo, Anne-Paule AP; Mazzarotto, Francesco F; Whiffin, Nicola N; Ware, James J; Hanson, Helen H; Pesaran, Tina T; LaDuca, Holly H; Buffet, Alexandre A; Maher, Eamonn R ER; Turnbull, Clare C; ,

Publication Date: 2021-11-19

Variant appearance in text: SDHB: 587G>A; Cys196Tyr

PubMed Link: 34906457

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

View BVdb publication page

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Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Garrett, Alice A; Loveday, Chey C; King, Laura L; Butler, Samantha S; Robinson, Rachel R; Horton, Carrie C; Yussuf, Amal A; Choi, Subin S; Torr, Beth B; Durkie, Miranda M; Burghel, George J GJ; Drummond, James J; Berry, Ian I; Wallace, Andrew A; Callaway, Alison A; Eccles, Diana D; Tischkowitz, Marc M; Tatton-Brown, Katrina K; Snape, Katie K; McVeigh, Terri T; Izatt, Louise L; Woodward, Emma R ER; Burnichon, Nelly N; Gimenez-Roqueplo, Anne-Paule AP; Mazzarotto, Francesco F; Whiffin, Nicola N; Ware, James J; Hanson, Helen H; Pesaran, Tina T; LaDuca, Holly H; Buffet, Alexandre A; Maher, Eamonn R ER; Turnbull, Clare C; ,

Publication Date: 2022-01

Variant appearance in text: SDHB: 587G>A; Cys196Tyr

PubMed Link: 34906457

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

View BVdb publication page

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International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma.

Journal Of Medical Genetics

Ben Aim, Laurene L; Maher, Eamonn R ER; Cascon, Alberto A; Barlier, Anne A; Giraud, Sophie S; Ercolino, Tonino T; Pigny, Pascal P; Clifton-Bligh, Roderick J RJ; Mirebeau-Prunier, Delphine D; Mohamed, Amira A; Favier, Judith J; Gimenez-Roqueplo, Anne-Paule AP; Schiavi, Francesca F; Toledo, Rodrigo A RA; Dahia, Patricia L PL; Robledo, Mercedes M; Bayley, Jean Pierre JP; Burnichon, Nelly N

Publication Date: 2022-08

Variant appearance in text: SDHB: 587G>A; Cys196Tyr; rs876658367

PubMed Link: 34452955

Variant Present in the following documents:

• jmedgenet-2020-107652supp002.xlsx, sheet 1

View BVdb publication page

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Exome sequencing and characterization of 49,960 individuals in the UK Biobank.

Nature

Van Hout, Cristopher V CV; Tachmazidou, Ioanna I; Backman, Joshua D JD; Hoffman, Joshua D JD; Liu, Daren D; Pandey, Ashutosh K AK; Gonzaga-Jauregui, Claudia C; Khalid, Shareef S; Ye, Bin B; Banerjee, Nilanjana N; Li, Alexander H AH; O'Dushlaine, Colm C; Marcketta, Anthony A; Staples, Jeffrey J; Schurmann, Claudia C; Hawes, Alicia A; Maxwell, Evan E; Barnard, Leland L; Lopez, Alexander A; Penn, John J; Habegger, Lukas L; Blumenfeld, Andrew L AL; Bai, Xiaodong X; O'Keeffe, Sean S; Yadav, Ashish A; Praveen, Kavita K; Jones, Marcus M; Salerno, William J WJ; Chung, Wendy K WK; Surakka, Ida I; Willer, Cristen J CJ; Hveem, Kristian K; Leader, Joseph B JB; Carey, David J DJ; Ledbetter, David H DH; , ; Cardon, Lon L; Yancopoulos, George D GD; Economides, Aris A; Coppola, Giovanni G; Shuldiner, Alan R AR; Balasubramanian, Suganthi S; Cantor, Michael M; , ; Nelson, Matthew R MR; Whittaker, John J; Reid, Jeffrey G JG; Marchini, Jonathan J; Overton, John D JD; Scott, Robert A RA; Abecasis, Gonçalo R GR; Yerges-Armstrong, Laura L; Baras, Aris A

Publication Date: 2020-10

Variant appearance in text: SDHB: 587G>A; Cys196Tyr

PubMed Link: 33087929

Variant Present in the following documents:

• 41586_2020_2853_MOESM11_ESM.xlsx, sheet 1

View BVdb publication page

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Tumor detection rates in screening of individuals with SDHx-related hereditary paraganglioma-pheochromocytoma syndrome.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Greenberg, Samantha E SE; Jacobs, Michelle F MF; Wachtel, Heather H; Anson, Amanda A; Buchmann, Luke L; Cohen, Debbie L DL; Bonanni, Maria M; Bennett, Bonita B; Naumer, Anne A; Schaefer, Amanda M AM; Kohlmann, Wendy W; Nathanson, Katherine L KL; Else, Tobias T; Fishbein, Lauren L

Publication Date: 2020-12

Variant appearance in text: SDHB: Cys196Tyr

PubMed Link: 32741965

Variant Present in the following documents:

• NIHMS1619684-supplement-Supplemental_Tables_S1-S3.xlsx, sheet 3

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: SDHB: 587G>A; C196Y

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Characterization of Malignant Head and Neck Paragangliomas at a Single Institution Across Multiple Decades.

Jama Otolaryngology-- Head & Neck Surgery

McCrary, Hilary C HC; Babajanian, Eric E; Calquin, Matias M; Carpenter, Patrick P; Casazza, Geoffrey G; Naumer, Anne A; Greenberg, Samantha S; Kohlmann, Wendy W; Cannon, Richard R; Monroe, Marcus M MM; Hunt, Jason P JP; Buchmann, Luke L

Publication Date: 2019-07-01

Variant appearance in text: SDHB: 587G>A

PubMed Link: 31194233

Variant Present in the following documents:

• Main text

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: SDHB: 587G>A; Cys196Tyr

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Toward automation of germline variant curation in clinical cancer genetics.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J

Publication Date: 2019-09

Variant appearance in text: SDHB: 587G>A; Cys196Tyr

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6
• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 7

View BVdb publication page

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An analysis of surveillance screening for SDHB-related disease in childhood and adolescence.

Endocrine Connections

Tufton, Nicola N; Shapiro, Lucy L; Sahdev, Anju A; Kumar, Ajith V AV; Martin, Lee L; Drake, William M WM; Akker, Scott A SA; Storr, Helen L HL

Publication Date: 2019-03-01

Variant appearance in text: SDHB: 587G>A

PubMed Link: 30694796

Variant Present in the following documents:

• Main text
• EC-18-0522.pdf

View BVdb publication page

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The 3PAs: An Update on the Association of Pheochromocytomas, Paragangliomas, and Pituitary Tumors.

Hormone And Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme

Xekouki, Paraskevi P; Brennand, Ana A; Whitelaw, Ben B; Pacak, Karel K; Stratakis, Constantine A CA

Publication Date: 2019-07

Variant appearance in text: SDHB: 587G>A; Cys196Tyr

PubMed Link: 30273935

Variant Present in the following documents:

• Main text

View BVdb publication page

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Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Richter, Susan S; Gieldon, Laura L; Pang, Ying Y; Peitzsch, Mirko M; Huynh, Thanh T; Leton, Rocio R; Viana, Bruna B; Ercolino, Tonino T; Mangelis, Anastasios A; Rapizzi, Elena E; Menschikowski, Mario M; Aust, Daniela D; Kroiss, Matthias M; Beuschlein, Felix F; Gudziol, Volker V; Timmers, Henri Jlm HJ; Lenders, Jacques J; Mannelli, Massimo M; Cascon, Alberto A; Pacak, Karel K; Robledo, Mercedes M; Eisenhofer, Graeme G; Klink, Barbara B

Publication Date: 2019-03

Variant appearance in text: SDHB: 587G>A; Cys196Tyr

PubMed Link: 30050099

Variant Present in the following documents:

• Main text
• NIHMS1505462-supplement-Supplementary_information_3.xlsx, sheet 1
• nihms-1505462.pdf

View BVdb publication page

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Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.

Journal Of Medical Genetics

Andrews, Katrina A KA; Ascher, David B DB; Pires, Douglas Eduardo Valente DEV; Barnes, Daniel R DR; Vialard, Lindsey L; Casey, Ruth T RT; Bradshaw, Nicola N; Adlard, Julian J; Aylwin, Simon S; Brennan, Paul P; Brewer, Carole C; Cole, Trevor T; Cook, Jackie A JA; Davidson, Rosemarie R; Donaldson, Alan A; Fryer, Alan A; Greenhalgh, Lynn L; Hodgson, Shirley V SV; Irving, Richard R; Lalloo, Fiona F; McConachie, Michelle M; McConnell, Vivienne P M VPM; Morrison, Patrick J PJ; Murday, Victoria V; Park, Soo-Mi SM; Simpson, Helen L HL; Snape, Katie K; Stewart, Susan S; Tomkins, Susan E SE; Wallis, Yvonne Y; Izatt, Louise L; Goudie, David D; Lindsay, Robert S RS; Perry, Colin G CG; Woodward, Emma R ER; Antoniou, Antonis C AC; Maher, Eamonn R ER

Publication Date: 2018-06

Variant appearance in text: SDHB: 587G>A; Cys196Tyr

PubMed Link: 29386252

Variant Present in the following documents:

• Main text
• jmedgenet-2017-105127.pdf

View BVdb publication page

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The emerging role and targetability of the TCA cycle in cancer metabolism.

Protein & Cell

Anderson, Nicole M NM; Mucka, Patrick P; Kern, Joseph G JG; Feng, Hui H

Publication Date: 2018-02

Variant appearance in text: SDHB: 587G>A

PubMed Link: 28748451

Variant Present in the following documents:

• Main text
• 13238_2017_Article_451.pdf

View BVdb publication page

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SDHB-related pheochromocytoma and paraganglioma penetrance and genotype-phenotype correlations.

Journal Of Cancer Research And Clinical Oncology

Jochmanova, Ivana I; Wolf, Katherine I KI; King, Kathryn S KS; Nambuba, Joan J; Wesley, Robert R; Martucci, Victoria V; Raygada, Margarita M; Adams, Karen T KT; Prodanov, Tamara T; Fojo, Antonio Tito AT; Lazurova, Ivica I; Pacak, Karel K

Publication Date: 2017-08

Variant appearance in text: SDHB: 587G>A; Cys196Tyr

PubMed Link: 28374168

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pituitary Carcinoma in a Patient with an SDHB Mutation.

Endocrine Pathology

Tufton, Nicola N; Roncaroli, Federico F; Hadjidemetriou, Irene I; Dang, Mary N MN; Dénes, Judit J; Guasti, Leonardo L; Thom, Maria M; Powell, Michael M; Baldeweg, Stephanie E SE; Fersht, Naomi N; Korbonits, Márta M

Publication Date: 2017-12

Variant appearance in text: SDHB: 587G>A

PubMed Link: 28284009

Variant Present in the following documents:

• Main text

View BVdb publication page

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Evaluation of Head and Neck Paragangliomas by Computed Tomography in Patients with Pheochromocytoma-Paraganglioma Syndromes.

Polish Journal Of Radiology

Michałowska, Ilona I; Lewczuk, Anna A; Ćwikła, Jarosław J; Prejbisz, Aleksander A; Swoboda-Rydz, Urszula U; Furmanek, Mariusz I MI; Szperl, Małgorzata M; Januszewicz, Andrzej A; Pęczkowska, Mariola M

Publication Date: 2016

Variant appearance in text: SDHB: 587G>A; C196Y

PubMed Link: 27867439

Variant Present in the following documents:

• Main text
• poljradiol-81-510.pdf

View BVdb publication page

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SDHB-Deficient Cancers: The Role of Mutations That Impair Iron Sulfur Cluster Delivery.

Journal Of The National Cancer Institute

Saxena, Neetu N; Maio, Nunziata N; Crooks, Daniel R DR; Ricketts, Christopher J CJ; Yang, Youfeng Y; Wei, Ming-Hui MH; Fan, Teresa W-M TW; Lane, Andrew N AN; Sourbier, Carole C; Singh, Anamika A; Killian, J Keith JK; Meltzer, Paul S PS; Vocke, Cathy D CD; Rouault, Tracey A TA; Linehan, W Marston WM

Publication Date: 2016-01

Variant appearance in text: SDHB: 587G>A; Cys196Tyr

PubMed Link: 26719882

Variant Present in the following documents:

• Main text

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: SDHB: C196Y

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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: SDHB: C196Y

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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Association of urinary bladder paragangliomas with germline mutations in the SDHB and VHL genes.

Urologic Oncology

Martucci, Victoria L VL; Lorenzo, Zarina G ZG; Weintraub, Michael M; del Rivero, Jaydira J; Ling, Alexander A; Merino, Maria M; Siddiqui, Minhaj M; Shuch, Brian B; Vourganti, Srinivas S; Linehan, W Marston WM; Agarwal, Piyush K PK; Pacak, Karel K

Publication Date: 2015-04

Variant appearance in text: SDHB: 587G>A; Cys196Tyr

PubMed Link: 25683602

Variant Present in the following documents:

• Main text

View BVdb publication page

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Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort.

The Journal Of Clinical Endocrinology And Metabolism

Dénes, Judit J; Swords, Francesca F; Rattenberry, Eleanor E; Stals, Karen K; Owens, Martina M; Cranston, Treena T; Xekouki, Paraskevi P; Moran, Linda L; Kumar, Ajith A; Wassif, Christopher C; Fersht, Naomi N; Baldeweg, Stephanie E SE; Morris, Damian D; Lightman, Stafford S; Agha, Amar A; Rees, Aled A; Grieve, Joan J; Powell, Michael M; Boguszewski, Cesar Luiz CL; Dutta, Pinaki P; Thakker, Rajesh V RV; Srirangalingam, Umasuthan U; Thompson, Chris J CJ; Druce, Maralyn M; Higham, Claire C; Davis, Julian J; Eeles, Rosalind R; Stevenson, Mark M; O'Sullivan, Brendan B; Taniere, Phillipe P; Skordilis, Kassiani K; Gabrovska, Plamena P; Barlier, Anne A; Webb, Susan M SM; Aulinas, Anna A; Drake, William M WM; Bevan, John S JS; Preda, Cristina C; Dalantaeva, Nadezhda N; Ribeiro-Oliveira, Antônio A; Garcia, Isabel Tena IT; Yordanova, Galina G; Iotova, Violeta V; Evanson, Jane J; Grossman, Ashley B AB; Trouillas, Jacqueline J; Ellard, Sian S; Stratakis, Constantine A CA; Maher, Eamonn R ER; Roncaroli, Federico F; Korbonits, Márta M

Publication Date: 2015-03

Variant appearance in text: SDHB: 587G>A; Cys196Tyr

PubMed Link: 25494863

Variant Present in the following documents:

• Main text

View BVdb publication page

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Hypertension in a teenager: a family affair.

Bmj Case Reports

Dubb, Sukhpreet Singh SS; Tafader, Asiya A; Meeran, Karim K; Fletcher, Jeremy J

Publication Date: 2014-01-15

Variant appearance in text: SDHB: Cys196Tyr

PubMed Link: 24429046

Variant Present in the following documents:

• Main text

View BVdb publication page

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Missense mutations in the human SDHB gene increase protein degradation without altering intrinsic enzymatic function.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology

Yang, Chunzhang C; Matro, Joey C JC; Huntoon, Kristin M KM; Ye, Donald Y DY; Huynh, Thanh T TT; Fliedner, Stephanie M J SM; Breza, Jan J; Zhuang, Zhengping Z; Pacak, Karel K

Publication Date: 2012-11

Variant appearance in text: SDHB: C196Y

PubMed Link: 22835832

Variant Present in the following documents:

• Main text

View BVdb publication page

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Biochemically silent abdominal paragangliomas in patients with mutations in the succinate dehydrogenase subunit B gene.

The Journal Of Clinical Endocrinology And Metabolism

Timmers, Henri J L M HJ; Pacak, Karel K; Huynh, Thanh T TT; Abu-Asab, Mones M; Tsokos, Maria M; Merino, Maria J MJ; Baysal, Bora E BE; Adams, Karen T KT; Eisenhofer, Graeme G

Publication Date: 2008-12

Variant appearance in text: SDHB: C196Y

PubMed Link: 18840642

Variant Present in the following documents:

• Main text

View BVdb publication page

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