Publications:

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Is SARS-COV-2 associated with alpha-1 antitrypsin deficiency?

Journal Of Thoracic Disease

Rodríguez-García, Carlota C; Rodríguez-Ruiz, Emilio E; Ruano-Raviña, Alberto A; Cruz, Raquel R; Piñeiro-Lamas, María M; Casal, Ana A; Lapunzina, Pablo P; Carracedo, Ángel Á; Valdés, Luis L

Publication Date: 2023-02-28

Variant appearance in text: rs28929470

PubMed Link: 36910046

Variant Present in the following documents:

• Main text
• jtd-15-02-711.pdf

View BVdb publication page

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Human placental proteomics and exon variant studies link AAT/SERPINA1 with spontaneous preterm birth.

Bmc Medicine

Tiensuu, Heli H; Haapalainen, Antti M AM; Tissarinen, Pinja P; Pasanen, Anu A; Määttä, Tomi A TA; Huusko, Johanna M JM; Ohlmeier, Steffen S; Bergmann, Ulrich U; Ojaniemi, Marja M; Muglia, Louis J LJ; Hallman, Mikko M; Rämet, Mika M

Publication Date: 2022-04-28

Variant appearance in text: SERPINA1: R247C; rs28929470

PubMed Link: 35477570

Variant Present in the following documents:

• Main text
• 12916_2022_Article_2339.pdf

View BVdb publication page

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SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications

Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X

Publication Date: 2022-02-08

Variant appearance in text: SERPINA1: R247C

PubMed Link: 35136070

Variant Present in the following documents:

• 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1

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: SERPINA1: R247C; rs28929470

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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Germline Sequencing Improves Tumor-Only Sequencing Interpretation in a Precision Genomic Study of Patients With Pediatric Solid Tumor.

Jco Precision Oncology

Schienda, Jaclyn J; Church, Alanna J AJ; Corson, Laura B LB; Decker, Brennan B; Clinton, Catherine M CM; Manning, Danielle K DK; Imamovic-Tuco, Alma A; Reidy, Deirdre D; Strand, Gianna R GR; Applebaum, Mark A MA; Bagatell, Rochelle R; DuBois, Steven G SG; Glade-Bender, Julia L JL; Kang, Wenjun W; Kim, AeRang A; Laetsch, Theodore W TW; Macy, Margaret E ME; Maese, Luke L; Pinto, Navin N; Sabnis, Amit J AJ; Schiffman, Joshua D JD; Colace, Susan I SI; Volchenboum, Samuel L SL; Weiser, Daniel A DA; Nowak, Jonathan A JA; Lindeman, Neal I NI; Janeway, Katherine A KA; Crompton, Brian D BD; Kamihara, Junne J

Publication Date: 2021

Variant appearance in text: SERPINA1: R247C

PubMed Link: 34964003

Variant Present in the following documents:

• po-5-po.21.00281.pdf

View BVdb publication page

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Variants of SERPINA1 and the increasing complexity of testing for alpha-1 antitrypsin deficiency.

Therapeutic Advances In Chronic Disease

Foil, Kimberly E KE

Publication Date: 2021

Variant appearance in text: SERPINA1: 739C>T; Arg247Cys

PubMed Link: 34408833

Variant Present in the following documents:

• Main text
• 10.1177_20406223211015954.pdf

View BVdb publication page

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Update on and future perspectives for the diagnosis of alpha-1 antitrypsin deficiency in Brazil.

Jornal Brasileiro De Pneumologia : Publicacao Oficial Da Sociedade Brasileira De Pneumologia E Tisilogia

Jardim, José R JR; Casas-Maldonado, Francisco F; Fernandes, Frederico Leon Arrabal FLA; Castellano, Maria Vera Cruz de O MVCO; Torres-Durán, María M; Miravitlles, Marc M

Publication Date: 2021

Variant appearance in text: A1AT: 739C>T

PubMed Link: 34076174

Variant Present in the following documents:

• Main text
• 1806-3756-jbpneu-47-03-e20200380.pdf

View BVdb publication page

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Known Mutations at the Cause of Alpha-1 Antitrypsin Deficiency an Updated Overview of SERPINA1 Variation Spectrum.

The Application Of Clinical Genetics

Seixas, Susana S; Marques, Patricia Isabel PI

Publication Date: 2021

Variant appearance in text: rs28929470

PubMed Link: 33790624

Variant Present in the following documents:

• Main text
• tacg-14-173.pdf

View BVdb publication page

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: SERPINA1: R247C

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Molecular diagnosis of alpha1-antitrypsin deficiency: A new method based on Luminex technology.

Journal Of Clinical Laboratory Analysis

Ottaviani, Stefania S; Barzon, Valentina V; Buxens, Amaya A; Gorrini, Marina M; Larruskain, Amaia A; El Hamss, Rachid R; Balderacchi, Alice M AM; Corsico, Angelo G AG; Ferrarotti, Ilaria I

Publication Date: 2020-07

Variant appearance in text: A1AT: 739C>T

PubMed Link: 32181528

Variant Present in the following documents:

• JCLA-34-e23279.pdf

View BVdb publication page

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Diagnosing Alpha-1-Antitrypsin Deficiency Using A PCR/Luminescence-Based Technology.

International Journal Of Chronic Obstructive Pulmonary Disease

Veith, Martina M; Klemmer, Andreas A; Anton, Iker I; El Hamss, Rachid R; Rapun, Noelia N; Janciauskiene, Sabina S; Kotke, Viktor V; Herr, Christian C; Bals, Robert R; Vogelmeier, Claus Franz CF; Greulich, Timm T

Publication Date: 2019

Variant appearance in text: SERPINA1: 739C>T

PubMed Link: 31819391

Variant Present in the following documents:

• Main text
• copd-14-2535.pdf

View BVdb publication page

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The Effects of Rare SERPINA1 Variants on Lung Function and Emphysema in SPIROMICS.

American Journal Of Respiratory And Critical Care Medicine

Ortega, Victor E VE; Li, Xingnan X; O'Neal, Wanda K WK; Lackey, Lela L; Ampleford, Elizabeth E; Hawkins, Gregory A GA; Grayeski, Philip J PJ; Laederach, Alain A; Barjaktarevic, Igor I; Barr, R Graham RG; Cooper, Christopher C; Couper, David D; Han, MeiLan K MK; Kanner, Richard E RE; Kleerup, Eric C EC; Martinez, Fernando J FJ; Paine, Robert R; Peters, Stephen P SP; Pirozzi, Cheryl C; Rennard, Stephen I SI; Woodruff, Prescott G PG; Hoffman, Eric A EA; Meyers, Deborah A DA; Bleecker, Eugene R ER; ,

Publication Date: 2020-03-01

Variant appearance in text: SERPINA1: 739C>T; rs28929470

PubMed Link: 31661293

Variant Present in the following documents:

• Main text

View BVdb publication page

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Adipose Mesenchymal Extracellular Vesicles as Alpha-1-Antitrypsin Physiological Delivery Systems for Lung Regeneration.

Cells

Bari, Elia E; Ferrarotti, Ilaria I; Di Silvestre, Dario D; Grisoli, Pietro P; Barzon, Valentina V; Balderacchi, Alice A; Torre, Maria Luisa ML; Rossi, Rossana R; Mauri, Pierluigi P; Corsico, Angelo Guido AG; Perteghella, Sara S

Publication Date: 2019-08-23

Variant appearance in text: SERPINA1: 739C>T; rs28929470

PubMed Link: 31450843

Variant Present in the following documents:

• Main text
• cells-08-00965.pdf

View BVdb publication page

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Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations.

Nature Genetics

Sakornsakolpat, Phuwanat P; Prokopenko, Dmitry D; Lamontagne, Maxime M; Reeve, Nicola F NF; Guyatt, Anna L AL; Jackson, Victoria E VE; Shrine, Nick N; Qiao, Dandi D; Bartz, Traci M TM; Kim, Deog Kyeom DK; Lee, Mi Kyeong MK; Latourelle, Jeanne C JC; Li, Xingnan X; Morrow, Jarrett D JD; Obeidat, Ma'en M; Wyss, Annah B AB; Bakke, Per P; Barr, R Graham RG; Beaty, Terri H TH; Belinsky, Steven A SA; Brusselle, Guy G GG; Crapo, James D JD; de Jong, Kim K; DeMeo, Dawn L DL; Fingerlin, Tasha E TE; Gharib, Sina A SA; Gulsvik, Amund A; Hall, Ian P IP; Hokanson, John E JE; Kim, Woo Jin WJ; Lomas, David A DA; London, Stephanie J SJ; Meyers, Deborah A DA; O'Connor, George T GT; Rennard, Stephen I SI; Schwartz, David A DA; Sliwinski, Pawel P; Sparrow, David D; Strachan, David P DP; Tal-Singer, Ruth R; Tesfaigzi, Yohannes Y; Vestbo, Jørgen J; Vonk, Judith M JM; Yim, Jae-Joon JJ; Zhou, Xiaobo X; Bossé, Yohan Y; Manichaikul, Ani A; Lahousse, Lies L; Silverman, Edwin K EK; Boezen, H Marike HM; Wain, Louise V LV; Tobin, Martin D MD; Hobbs, Brian D BD; Cho, Michael H MH; , ; ,

Publication Date: 2019-03

Variant appearance in text: rs28929470

PubMed Link: 30804561

Variant Present in the following documents:

• Main text
• nihms-1517255.pdf

View BVdb publication page

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Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports

Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM

Publication Date: 2019-02-19

Variant appearance in text: SERPINA1: R247C

PubMed Link: 30784590

Variant Present in the following documents:

• mmc6.xlsx, sheet 6
• mmc6.xlsx, sheet 2
• mmc6.xlsx, sheet 5
• mmc6.xlsx, sheet 1
• mmc6.xlsx, sheet 3
• mmc6.xlsx, sheet 4

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: SERPINA1: R247C; rs28929470

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Characterisation of a type II functionally-deficient variant of alpha-1-antitrypsin discovered in the general population.

Plos One

Laffranchi, Mattia M; Elliston, Emma L K ELK; Gangemi, Fabrizio F; Berardelli, Romina R; Lomas, David A DA; Irving, James A JA; Fra, Annamaria A

Publication Date: 2019

Variant appearance in text: SERPINA1: R247C

PubMed Link: 30633749

Variant Present in the following documents:

• Main text
• pone.0206955.pdf

View BVdb publication page

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Whole exome sequencing analysis in severe chronic obstructive pulmonary disease.

Human Molecular Genetics

Qiao, Dandi D; Ameli, Asher A; Prokopenko, Dmitry D; Chen, Han H; Kho, Alvin T AT; Parker, Margaret M MM; Morrow, Jarrett J; Hobbs, Brian D BD; Liu, Yanhong Y; Beaty, Terri H TH; Crapo, James D JD; Barnes, Kathleen C KC; Nickerson, Deborah A DA; Bamshad, Michael M; Hersh, Craig P CP; Lomas, David A DA; Agusti, Alvar A; Make, Barry J BJ; Calverley, Peter M A PMA; Donner, Claudio F CF; Wouters, Emiel F EF; Vestbo, Jørgen J; Paré, Peter D PD; Levy, Robert D RD; Rennard, Stephen I SI; Tal-Singer, Ruth R; Spitz, Margaret R MR; Sharma, Amitabh A; Ruczinski, Ingo I; Lange, Christoph C; Silverman, Edwin K EK; Cho, Michael H MH

Publication Date: 2018-11-01

Variant appearance in text: rs28929470

PubMed Link: 30060175

Variant Present in the following documents:

• Main text

View BVdb publication page

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Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications

Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M

Publication Date: 2018-02-15

Variant appearance in text: SERPINA1: R247C; rs28929470

PubMed Link: 29449575

Variant Present in the following documents:

• 41467_2017_2688_MOESM14_ESM.xls, sheet 3

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: SERPINA1: 739C>T; Arg247Cys

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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A study of common Mendelian disease carriers across ageing British cohorts: meta-analyses reveal heterozygosity for alpha 1-antitrypsin deficiency increases respiratory capacity and height.

Journal Of Medical Genetics

North, Teri-Louise TL; Ben-Shlomo, Yoav Y; Cooper, Cyrus C; Deary, Ian J IJ; Gallacher, John J; Kivimaki, Mika M; Kumari, Meena M; Martin, Richard M RM; Pattie, Alison A; Sayer, Avan Aihie AA; Starr, John M JM; Wong, Andrew A; Kuh, Diana D; Rodriguez, Santiago S; Day, Ian N M IN

Publication Date: 2016-04

Variant appearance in text: rs28929470

PubMed Link: 26831755

Variant Present in the following documents:

• jmedgenet-2015-103342-s1.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: rs28929470

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome.

G3 (Bethesda, Md.)

Merico, Daniele D; Zarrei, Mehdi M; Costain, Gregory G; Ogura, Lucas L; Alipanahi, Babak B; Gazzellone, Matthew J MJ; Butcher, Nancy J NJ; Thiruvahindrapuram, Bhooma B; Nalpathamkalam, Thomas T; Chow, Eva W C EW; Andrade, Danielle M DM; Frey, Brendan J BJ; Marshall, Christian R CR; Scherer, Stephen W SW; Bassett, Anne S AS

Publication Date: 2015-09-16

Variant appearance in text: SERPINA1: R247C; rs28929470

PubMed Link: 26384369

Variant Present in the following documents:

• supp_g3.115.021345_TableS1.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: SERPINA1: R247C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.

Human Molecular Genetics

Pagnamenta, Alistair T AT; Howard, Malcolm F MF; Wisniewski, Eva E; Popitsch, Niko N; Knight, Samantha J L SJ; Keays, David A DA; Quaghebeur, Gerardine G; Cox, Helen H; Cox, Phillip P; Balla, Tamas T; Taylor, Jenny C JC; Kini, Usha U

Publication Date: 2015-07-01

Variant appearance in text: SERPINA1: 739C>T; R247C

PubMed Link: 25855803

Variant Present in the following documents:

• supp_ddv117_ddv117supp_table2.xls, sheet 1

View BVdb publication page

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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: rs28929470

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, 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: SERPINA1: R247C; rs28929470

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: SERPINA1: R247C

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-9.xlsx, sheet 1
• NIHMS551112-supplement-7.xlsx, sheet 1

View BVdb publication page

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Alpha1-antitrypsin deficiency: a clinical-genetic overview.

The Application Of Clinical Genetics

Abboud, Raja T RT; Nelson, Tanya N TN; Jung, Benjamin B; Mattman, Andre A

Publication Date: 2011

Variant appearance in text: SERPINA1: 739C>T

PubMed Link: 23776367

Variant Present in the following documents:

• Main text
• tacg-4-055.pdf

View BVdb publication page

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A challenging diagnosis of alpha-1-antitrypsin deficiency: identification of a patient with a novel F/Null phenotype.

Allergy, Asthma, And Clinical Immunology : Official Journal Of The Canadian Society Of Allergy And Clinical Immunology

Ringenbach, Michael R MR; Banta, Erin E; Snyder, Melissa R MR; Craig, Timothy J TJ; Ishmael, Faoud T FT

Publication Date: 2011-11-13

Variant appearance in text: A1AT: R247C

PubMed Link: 22078084

Variant Present in the following documents:

• Main text
• 1710-1492-7-18.pdf

View BVdb publication page

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