TUBB1 c.128A>C ;(p.Q43P)

Variant ID: 20-57597970-A-C

NM_030773.3(TUBB1):c.128A>C;(p.Q43P)

This variant was identified in 33 publications

View GRCh38 version.




Publications:


Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-25

Variant appearance in text: TUBB1: Q43P; rs463312
PubMed Link: 36966136
Variant Present in the following documents:
  • 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: TUBB1: Q43P
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
View BVdb publication page



Highlighting novel genes associated with the classical Rett syndrome patient from India.

Genes & Diseases
Mohan, Gomathi G; Sarma, Ranjan Jyoti RJ; Iyer, Mahalaxmi M; Kumar, Nachimuthu Senthil NS; Vellingiri, Balachandar B
Publication Date: 2022-11

Variant appearance in text: TUBB1: Q43P; rs463312
PubMed Link: 36157478
Variant Present in the following documents:
  • Main text
  • main.pdf
  • mmc1.xlsx, sheet 1
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: TUBB1: Q43P
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Intracerebral Hemorrhage Genetics.

Genes
Ekkert, Aleksandra A; Šliachtenko, Aleksandra A; Utkus, Algirdas A; Jatužis, Dalius D
Publication Date: 2022-07-15

Variant appearance in text: TUBB1: Q43P
PubMed Link: 35886033
Variant Present in the following documents:
  • Main text
  • genes-13-01250.pdf
View BVdb publication page



Profiling of Non-Coding Regulators and Their Targets in Epicardial Fat from Patients with Coronary Artery Disease.

International Journal Of Molecular Sciences
Flinn, Brendin B; Adams, Christopher C; Chowdhury, Nepal N; Gress, Todd T; Santanam, Nalini N
Publication Date: 2022-05-10

Variant appearance in text: TUBB1: Q43P
PubMed Link: 35628106
Variant Present in the following documents:
  • Main text
  • ijms-23-05297.pdf
View BVdb publication page



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: TUBB1: Q43P; rs463312
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
View BVdb publication page



A renal cell carcinoma tumorgraft platform to advance precision medicine.

Cell Reports
Elias, Roy R; Tcheuyap, Vanina T VT; Kaushik, Akash K AK; Singla, Nirmish N; Gao, Ming M; Reig Torras, Oscar O; Christie, Alana A; Mulgaonkar, Aditi A; Woolford, Layton L; Stevens, Christina C; Kettimuthu, Kavitha Priya KP; Pavia-Jimenez, Andrea A; Boroughs, Lindsey K LK; Joyce, Allison A; Dakanali, Marianna M; Notgrass, Hollis H; Margulis, Vitaly V; Cadeddu, Jeffrey A JA; Pedrosa, Ivan I; Williams, Noelle S NS; Sun, Xiankai X; DeBerardinis, Ralph J RJ; Öz, Orhan K OK; Zhong, Hua H; Seshagiri, Somasekar S; Modrusan, Zora Z; Cantarel, Brandi L BL; Kapur, Payal P; Brugarolas, James J
Publication Date: 2021-11-23

Variant appearance in text: TUBB1: 128A>C; Q43P; rs463312
PubMed Link: 34818533
Variant Present in the following documents:
  • NIHMS1761779-supplement-Table_S8.xlsx, sheet 1
View BVdb publication page



A renal cell carcinoma tumorgraft platform to advance precision medicine.

Cell Reports
Elias, Roy R; Tcheuyap, Vanina T VT; Kaushik, Akash K AK; Singla, Nirmish N; Gao, Ming M; Reig Torras, Oscar O; Christie, Alana A; Mulgaonkar, Aditi A; Woolford, Layton L; Stevens, Christina C; Kettimuthu, Kavitha Priya KP; Pavia-Jimenez, Andrea A; Boroughs, Lindsey K LK; Joyce, Allison A; Dakanali, Marianna M; Notgrass, Hollis H; Margulis, Vitaly V; Cadeddu, Jeffrey A JA; Pedrosa, Ivan I; Williams, Noelle S NS; Sun, Xiankai X; DeBerardinis, Ralph J RJ; Öz, Orhan K OK; Zhong, Hua H; Seshagiri, Somasekar S; Modrusan, Zora Z; Cantarel, Brandi L BL; Kapur, Payal P; Brugarolas, James J
Publication Date: 2021-11-23

Variant appearance in text: TUBB1: 128A>C; Q43P; rs463312
PubMed Link: 34818533
Variant Present in the following documents:
  • NIHMS1761779-supplement-Table_S8.xlsx, sheet 1
View BVdb publication page



Expanding the genetic spectrum of TUBB1-related thrombocytopenia.

Blood Advances
Palma-Barqueros, Verónica V; Bury, Loredana L; Kunishima, Shinji S; Lozano, Maria L ML; Rodriguez Alen, Agustin A; Revilla, Nuria N; Bohdan, Natalia N; Padilla, José J; Fernandez-Perez, Maria Piedad MP; de la Morena-Barrio, Maria Eugenia ME; Marín-Quilez, Ana A; Benito, Rocío R; López-Fernández, María Fernanda MF; Marcellini-Antonio, Shally S; Zamora-Cánovas, Ana A; Vicente, Vicente V; Martinez, Constantino C; Gresele, Paolo P; Bastida, Jose Maria JM; Rivera, Jose J
Publication Date: 2021-09-13

Variant appearance in text: TUBB1: Gln43Pro
PubMed Link: 34516618
Variant Present in the following documents:
  • Main text
  • advancesADV2020004057.pdf
View BVdb publication page



Expanding the genetic spectrum of TUBB1-related thrombocytopenia.

Blood Advances
Palma-Barqueros, Verónica V; Bury, Loredana L; Kunishima, Shinji S; Lozano, María Luisa ML; Rodríguez-Alen, Augustín A; Revilla, Nuria N; Bohdan, Natalia N; Padilla, José J; Fernández-Pérez, María P MP; de la Morena-Barrio, María Eugenia ME; Marín-Quilez, Ana A; Benito, Rocío R; López-Fernández, María F MF; Marcellini, Shally S; Zamora-Cánovas, Ana A; Vicente, Vicente V; Martínez, Constantino C; Gresele, Paolo P; Bastida, José M JM; Rivera, José J
Publication Date: 2021-12-28

Variant appearance in text: TUBB1: Gln43Pro
PubMed Link: 34516618
Variant Present in the following documents:
  • Main text
  • advancesADV2020004057.pdf
View BVdb publication page



A synergetic effect of BARD1 mutations on tumorigenesis.

Nature Communications
Li, Wenjing W; Gu, Xiaoyang X; Liu, Chunhong C; Shi, Yanyan Y; Wang, Pan P; Zhang, Na N; Wu, Rui R; Leng, Liang L; Xie, Bingteng B; Song, Chen C; Li, Mo M
Publication Date: 2021-02-23

Variant appearance in text: TUBB1: Q43P; rs463312
PubMed Link: 33623049
Variant Present in the following documents:
  • 41467_2021_21519_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Identification of biological correlates associated with respiratory failure in COVID-19.

Bmc Medical Genomics
Oh, Jung Hun JH; Tannenbaum, Allen A; Deasy, Joseph O JO
Publication Date: 2020-12-11

Variant appearance in text: TUBB1: Q43P
PubMed Link: 33308225
Variant Present in the following documents:
  • Main text
  • 12920_2020_Article_839.pdf
View BVdb publication page



Identification of novel TUBB1 variants in patients with macrothrombocytopenia.

Turkish Journal Of Medical Sciences
Çalışkaner, Zihni Onur ZO; Abdul Waheed, Abdullah A; Tuzlakoğlu Öztürk, Merve M; Oymak, Yeşim Y; Tazebay, Uygar Halis UH; Akar, Nejat N; Kandilci, Ayten A; Torun Özkan, Didem D
Publication Date: 2021-04-30

Variant appearance in text: TUBB1: Q43P
PubMed Link: 32892537
Variant Present in the following documents:
  • Main text
  • turkjmedsci-51-490.pdf
View BVdb publication page



Genetic risk of Spontaneous intracerebral hemorrhage: Systematic review and future directions.

Journal Of The Neurological Sciences
Wahab, Kolawole Wasiu KW; Tiwari, Hemant K HK; Ovbiagele, Bruce B; Sarfo, Fred F; Akinyemi, Rufus R; Traylor, Matthew M; Rotimi, Charles C; Markus, Hugh Stephen HS; Owolabi, Mayowa M
Publication Date: 2019-12-15

Variant appearance in text: TUBB1: Q43P
PubMed Link: 31669726
Variant Present in the following documents:
  • Main text
View BVdb publication page



Use of Targeted High-Throughput Sequencing for Genetic Classification of Patients with Bleeding Diathesis and Suspected Platelet Disorder.

Th Open : Companion Journal To Thrombosis And Haemostasis
Andres, Oliver O; König, Eva-Maria EM; Althaus, Karina K; Bakchoul, Tamam T; Bugert, Peter P; Eber, Stefan S; Knöfler, Ralf R; Kunstmann, Erdmute E; Manukjan, Georgi G; Meyer, Oliver O; Strauß, Gabriele G; Streif, Werner W; Thiele, Thomas T; Wiegering, Verena V; Klopocki, Eva E; Schulze, Harald H; ,
Publication Date: 2018-10

Variant appearance in text: TUBB1: Q43P
PubMed Link: 31249973
Variant Present in the following documents:
  • Main text
View BVdb publication page



Resistance to paclitaxel is associated with a variant of the gene BCL2 in multiple tumor types.

Npj Precision Oncology
Ben-Hamo, Rotem R; Zilberberg, Alona A; Cohen, Helit H; Bahar-Shany, Keren K; Wachtel, Chaim C; Korach, Jacob J; Aviel-Ronen, Sarit S; Barshack, Iris I; Barash, Danny D; Levanon, Keren K; Efroni, Sol S
Publication Date: 2019

Variant appearance in text: rs463312
PubMed Link: 31044156
Variant Present in the following documents:
  • 41698_2019_Article_84.pdf
View BVdb publication page



Genetic Polymorphisms Associated with Spontaneous Intracerebral Hemorrhage.

International Journal Of Molecular Sciences
Chen, Yi-Chun YC; Chang, Kuo-Hsuan KH; Chen, Chiung-Mei CM
Publication Date: 2018-12-04

Variant appearance in text: TUBB1: Q43P
PubMed Link: 30518145
Variant Present in the following documents:
  • Main text
  • ijms-19-03879.pdf
View BVdb publication page



A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine
Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H
Publication Date: 2018-09

Variant appearance in text: TUBB1: 128A>C; Q43P; rs463312
PubMed Link: 29974678
Variant Present in the following documents:
  • MGG3-6-739-s002.xlsx, sheet 7
  • MGG3-6-739-s002.xlsx, sheet 4
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: rs463312
PubMed Link: 29273096
Variant Present in the following documents:
  • Main text
  • 13073_2017_Article_502.pdf
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Development and validation of a targeted next generation DNA sequencing panel outperforming whole exome sequencing for the identification of clinically relevant genetic variants.

Oncotarget
Miller, Eirwen M EM; Patterson, Nicole E NE; Zechmeister, Jenna Marcus JM; Bejerano-Sagie, Michal M; Delio, Maria M; Patel, Kunjan K; Ravi, Nivedita N; Quispe-Tintaya, Wilber W; Maslov, Alexander A; Simmons, Nichelle N; Castaldi, Maria M; Vijg, Jan J; Karabakhtsian, Rouzan G RG; Greally, John M JM; Kuo, Dennis Y S DYS; Montagna, Cristina C
Publication Date: 2017-11-24

Variant appearance in text: TUBB1: Q43P; rs463312
PubMed Link: 29254223
Variant Present in the following documents:
  • oncotarget-08-102033-s003.xlsx, sheet 1
View BVdb publication page



High-throughput allele-specific expression across 250 environmental conditions.

Genome Research
Moyerbrailean, Gregory A GA; Richards, Allison L AL; Kurtz, Daniel D; Kalita, Cynthia A CA; Davis, Gordon O GO; Harvey, Chris T CT; Alazizi, Adnan A; Watza, Donovan D; Sorokin, Yoram Y; Hauff, Nancy N; Zhou, Xiang X; Wen, Xiaoquan X; Pique-Regi, Roger R; Luca, Francesca F
Publication Date: 2016-12

Variant appearance in text: rs463312
PubMed Link: 27934696
Variant Present in the following documents:
  • supp_gr.209759.116_Supplemental_Materials.pdf
View BVdb publication page



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: rs463312
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



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: TUBB1: Q43P
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



Genetic Basis of Common Human Disease: Insight into the Role of Missense SNPs from Genome-Wide Association Studies.

Journal Of Molecular Biology
Pal, Lipika R LR; Moult, John J
Publication Date: 2015-07-03

Variant appearance in text: TUBB1: Q43P
PubMed Link: 25937569
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics
Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J
Publication Date: 2015-03-12

Variant appearance in text: TUBB1: Q43P; rs463312
PubMed Link: 25887915
Variant Present in the following documents:
  • 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Immunity & Ageing : I & A
Villa, Francesco F; Maciąg, Anna A; Spinelli, Chiara C CC; Ferrario, Anna A; Carrizzo, Albino A; Parisi, Attilio A; Torella, Annalaura A; Montenero, Chiara C; Condorelli, Gianluigi G; Vecchione, Carmine C; Nigro, Vincenzo V; Montenero, Annibale S AS; Puca, Annibale A AA
Publication Date: 2014

Variant appearance in text: TUBB1: Q43P; rs463312
PubMed Link: 25469153
Variant Present in the following documents:
  • 12979_2014_19_MOESM2_ESM.xls, sheet 1
View BVdb publication page



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: rs463312
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Platelets of mice heterozygous for neurobeachin, a candidate gene for autism spectrum disorder, display protein changes related to aberrant protein kinase A activity.

Molecular Autism
Nuytens, Kim K; Tuand, Krizia K; Di Michele, Michela M; Boonen, Kurt K; Waelkens, Etienne E; Freson, Kathleen K; Creemers, John Wm JW
Publication Date: 2013-11-04

Variant appearance in text: TUBB1: Q43P
PubMed Link: 24188528
Variant Present in the following documents:
  • 2040-2392-4-43.pdf
View BVdb publication page



The beta 1 tubulin R307H single nucleotide polymorphism is associated with treatment failures in immune thrombocytopenia (ITP).

British Journal Of Haematology
Basciano, Paul A PA; Bussel, James J; Hafeez, Zeeshan Z; Christos, Paul J PJ; Giannakakou, Paraskevi P
Publication Date: 2013-01

Variant appearance in text: TUBB1: Q43P
PubMed Link: 23157319
Variant Present in the following documents:
  • Main text
View BVdb publication page



A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans.

Plos Genetics
Qayyum, Rehan R; Snively, Beverly M BM; Ziv, Elad E; Nalls, Michael A MA; Liu, Yongmei Y; Tang, Weihong W; Yanek, Lisa R LR; Lange, Leslie L; Evans, Michele K MK; Ganesh, Santhi S; Austin, Melissa A MA; Lettre, Guillaume G; Becker, Diane M DM; Zonderman, Alan B AB; Singleton, Andrew B AB; Harris, Tamara B TB; Mohler, Emile R ER; Logsdon, Benjamin A BA; Kooperberg, Charles C; Folsom, Aaron R AR; Wilson, James G JG; Becker, Lewis C LC; Reiner, Alexander P AP
Publication Date: 2012

Variant appearance in text: TUBB1: Q43P
PubMed Link: 22423221
Variant Present in the following documents:
  • pgen.1002491.pdf
View BVdb publication page



Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation).

Haematologica
Noris, Patrizia P; Perrotta, Silverio S; Bottega, Roberta R; Pecci, Alessandro A; Melazzini, Federica F; Civaschi, Elisa E; Russo, Sabina S; Magrin, Silvana S; Loffredo, Giuseppe G; Di Salvo, Veronica V; Russo, Giovanna G; Casale, Maddalena M; De Rocco, Daniela D; Grignani, Claudio C; Cattaneo, Marco M; Baronci, Carlo C; Dragani, Alfredo A; Albano, Veronica V; Jankovic, Momcilo M; Scianguetta, Saverio S; Savoia, Anna A; Balduini, Carlo L CL
Publication Date: 2012-01

Variant appearance in text: TUBB1: Q43P
PubMed Link: 21933849
Variant Present in the following documents:
  • Main text
View BVdb publication page



Potential large animal models for gene therapy of human genetic diseases of immune and blood cell systems.

Ilar Journal
Bauer, Thomas R TR; Adler, Rima L RL; Hickstein, Dennis D DD
Publication Date: 2009

Variant appearance in text: TUBB1: Q43P
PubMed Link: 19293460
Variant Present in the following documents:
  • Main text
View BVdb publication page