Publications:

---

Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs1385129

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

---

Genetic Modulation of the GLUT1 Transporter Expression-Potential Relevance in Complex Diseases.

Biology

Kulin, Anna A; Kucsma, Nóra N; Bohár, Balázs B; Literáti-Nagy, Botond B; Korányi, László L; Cserepes, Judit J; Somogyi, Anikó A; Sarkadi, Balázs B; Szabó, Edit E; Várady, György G

Publication Date: 2022-11-16

Variant appearance in text: rs1385129

PubMed Link: 36421383

Variant Present in the following documents:

• Main text
• biology-11-01669.pdf

View BVdb publication page

---

Genetic susceptibility of bladder cancer in the Lebanese population.

Bmc Medical Genomics

Kourie, Hampig Raphael HR; Succar, Bahaa B; Chouery, Eliane E; Mehawej, Cybel C; Ahmadieh, Nizar N; Zouein, Joseph J; Mardirossian, Avedis A; Jalkh, Nadine N; Sleilaty, Ghassan G; Kattan, Joseph J; Nemr, Elie E

Publication Date: 2022-10-17

Variant appearance in text: N/A

PubMed Link: 36253817

Variant Present in the following documents:

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: SLC2A1: A15A

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2

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: SLC2A1: A15A; rs1385129

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

---

The Variable Nature of Vitamin C-Does It Help When Dealing with Coronavirus?

Antioxidants (Basel, Switzerland)

Grudlewska-Buda, Katarzyna K; Wiktorczyk-Kapischke, Natalia N; Budzyńska, Anna A; Kwiecińska-Piróg, Joanna J; Przekwas, Jana J; Kijewska, Agnieszka A; Sabiniarz, Dominika D; Gospodarek-Komkowska, Eugenia E; Skowron, Krzysztof K

Publication Date: 2022-06-24

Variant appearance in text: rs1385129

PubMed Link: 35883738

Variant Present in the following documents:

• Main text
• antioxidants-11-01247.pdf

View BVdb publication page

---

Bacillus Calmette-Guérin Treatment Changes the Tumor Microenvironment of Non-Muscle-Invasive Bladder Cancer.

Frontiers In Oncology

Su, Fei F; Liu, Ming M; Zhang, Wei W; Tang, Min M; Zhang, Jinsong J; Li, Hexin H; Zou, Lihui L; Zhang, Rui R; Liu, Yudong Y; Li, Lin L; Ma, Jie J; Zhang, Yaqun Y; Chen, Meng M; Xiao, Fei F

Publication Date: 2022

Variant appearance in text: SLC2A1: A15A

PubMed Link: 35311085

Variant Present in the following documents:

• Table_1.xlsx, sheet 4

View BVdb publication page

---

Impact of germline polymorphisms in genes regulating glucose uptake on positron emission tomography findings and outcome in diffuse large B-cell lymphoma: results from the PETAL trial.

Journal Of Cancer Research And Clinical Oncology

Broecker-Preuss, Martina M; Becher-Boveleth, Nina N; Müller, Stefan P SP; Hüttmann, Andreas A; Hanoun, Christine C; Grafe, Hong H; Richter, Julia J; Klapper, Wolfram W; Rekowski, Jan J; Bockisch, Andreas A; Dührsen, Ulrich U

Publication Date: 2022-10

Variant appearance in text: rs1385129

PubMed Link: 34708297

Variant Present in the following documents:

• Main text
• 432_2021_Article_3796.pdf

View BVdb publication page

---

Polymorphism in the HaeIII single nucleotide polymorphism of the SLC2A1 gene and cardiovascular disease in the early type 2 diabetes mellitus.

Diabetes & Vascular Disease Research

Lee, Dong-Hwa DH; Won, Gun Woo GW; Lee, Yong Hee YH; Shin, Jong Sung JS; Ku, Eu Jeong EJ; Oh, Tae Keun TK; Jeon, Hyun Jeong HJ

Publication Date: 2021

Variant appearance in text: rs1385129

PubMed Link: 34488469

Variant Present in the following documents:

• Main text
• 10.1177_14791641211041225.pdf

View BVdb publication page

---

Polymorphism in the HaeIII single nucleotide polymorphism of the SLC2A1 gene and cardiovascular disease in the early type 2 diabetes mellitus.

Diabetes & Vascular Disease Research

Lee, Dong-Hwa DH; Won, Gun Woo GW; Lee, Yong Hee YH; Shin, Jong Sung JS; Ku, Eu Jeong EJ; Oh, Tae Keun TK; Jeon, Hyun Jeong HJ

Publication Date: 2021

Variant appearance in text: rs1385129

PubMed Link: 34488469

Variant Present in the following documents:

• Main text
• 10.1177_14791641211041225.pdf

View BVdb publication page

---

Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: N/A

PubMed Link: 34054912

Variant Present in the following documents:

View BVdb publication page

---

Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: SLC2A1: A15A; rs1385129

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

Prognostic significance of genetic variants in GLUT1 in stage III non-small cell lung cancer treated with radiotherapy.

Thoracic Cancer

Kang, Min Kyu MK; Lee, Shin Yup SY; Choi, Jin Eun JE; Baek, Sun Ah SA; Do, Sook Kyung SK; Lee, Jeong Eun JE; Park, Jongmoo J; Yoo, Seung Soo SS; Choi, Sunha S; Shin, Kyung Min KM; Jeong, Ji Yun JY; Park, Jae Yong JY

Publication Date: 2021-03

Variant appearance in text: rs1385129

PubMed Link: 33522072

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: SLC2A1: A15A; rs1385129

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

---

Incomplete immune reconstitution in HIV/AIDS patients on antiretroviral therapy: Challenges of immunological non-responders.

Journal Of Leukocyte Biology

Yang, Xiaodong X; Su, Bin B; Zhang, Xin X; Liu, Yan Y; Wu, Hao H; Zhang, Tong T

Publication Date: 2020-04

Variant appearance in text: rs1385129

PubMed Link: 31965635

Variant Present in the following documents:

• Main text
• JLB-107-597.pdf

View BVdb publication page

---

PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: N/A

PubMed Link: 31640808

Variant Present in the following documents:

View BVdb publication page

---

Associations between the HaeIII Single Nucleotide Polymorphism in the SLC2A1 Gene and Diabetic Nephropathy in Korean Patients with Type 2 Diabetes Mellitus.

Journal Of Korean Medical Science

Lee, Dong Hwa DH; Won, Gun Woo GW; Lee, Yong Hee YH; Ku, Eu Jeong EJ; Oh, Tae Keun TK; Jeon, Hyun Jeong HJ

Publication Date: 2019-06-24

Variant appearance in text: rs1385129

PubMed Link: 31222984

Variant Present in the following documents:

• Main text
• jkms-34-e171.pdf

View BVdb publication page

---

A pan-cancer analysis of synonymous mutations.

Nature Communications

Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S

Publication Date: 2019-06-12

Variant appearance in text: SLC2A1: 45C>T

PubMed Link: 31189880

Variant Present in the following documents:

• 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

---

Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: rs1385129

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology

Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H

Publication Date: 2018-11-29

Variant appearance in text: rs1385129

PubMed Link: 30497413

Variant Present in the following documents:

• 12883_2018_1199_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

---

The contribution of genetic variants of SLC2A1 gene in T2DM and T2DM-nephropathy: association study and meta-analysis.

Renal Failure

Stefanidis, I I; Tziastoudi, M M; Tsironi, E E EE; Dardiotis, E E; Tachmitzi, S V SV; Fotiadou, A A; Pissas, G G; Kytoudis, K K; Sounidaki, M M; Ampatzis, G G; Mertens, P R PR; Liakopoulos, V V; Eleftheriadis, T T; Hadjigeorgiou, G M GM; Santos, M M; Zintzaras, E E

Publication Date: 2018-11

Variant appearance in text: rs1385129

PubMed Link: 30353771

Variant Present in the following documents:

• Main text
• irnf-40-1496931.pdf

View BVdb publication page

---

Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: SLC2A1: 45C>T; rs1385129

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

---

Oral abstracts of the 22nd International AIDS Conference, 23-27 July 2018, Amsterdam, the Netherlands.

Journal Of The International Aids Society

Publication Date: 2018-07

Variant appearance in text: rs1385129

PubMed Link: 30051631

Variant Present in the following documents:

• Main text

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: SLC2A1: A15A; rs1385129

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7
• MGG3-6-739-s002.xlsx, sheet 5

View BVdb publication page

---

Polymorphism rs1385129 Within Glut1 Gene SLC2A1 Is Linked to Poor CD4+ T Cell Recovery in Antiretroviral-Treated HIV+ Individuals.

Frontiers In Immunology

Masson, Jesse J R JJR; Cherry, Catherine L CL; Murphy, Nicholas M NM; Sada-Ovalle, Isabel I; Hussain, Tabinda T; Palchaudhuri, Riya R; Martinson, Jeffrey J; Landay, Alan L AL; Billah, Baki B; Crowe, Suzanne M SM; Palmer, Clovis S CS

Publication Date: 2018

Variant appearance in text: rs1385129

PubMed Link: 29867928

Variant Present in the following documents:

• Main text
• fimmu-09-00900.pdf

View BVdb publication page

---

Survival of pancreatic cancer cells lacking KRAS function.

Nature Communications

Muzumdar, Mandar Deepak MD; Chen, Pan-Yu PY; Dorans, Kimberly Judith KJ; Chung, Katherine Minjee KM; Bhutkar, Arjun A; Hong, Erin E; Noll, Elisa M EM; Sprick, Martin R MR; Trumpp, Andreas A; Jacks, Tyler T

Publication Date: 2017-10-23

Variant appearance in text: SLC2A1: A15A

PubMed Link: 29061961

Variant Present in the following documents:

• 41467_2017_942_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases

Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ

Publication Date: 2017-05-23

Variant appearance in text: SLC2A1: A15A; rs1385129

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

---

The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.

Oncotarget

Lim, Chul-Hyun CH; Cho, Yu Kyung YK; Kim, Sang Woo SW; Choi, Myung-Gyu MG; Rhee, Je-Keun JK; Chung, Yeun-Jun YJ; Lee, Sug-Hyung SH; Kim, Tae-Min TM

Publication Date: 2016-06-28

Variant appearance in text: SLC2A1: A15A

PubMed Link: 27175599

Variant Present in the following documents:

• oncotarget-07-39758-s006.xlsx, sheet 1

View BVdb publication page

---

Mutation Analysis of MR-1, SLC2A1, and CLCN1 in 28 PRRT2-negative Paroxysmal Kinesigenic Dyskinesia Patients.

Chinese Medical Journal

Wang, Hong-Xia HX; Li, Hong-Fu HF; Liu, Gong-Lu GL; Wen, Xiao-Dan XD; Wu, Zhi-Ying ZY

Publication Date: 2016-05-05

Variant appearance in text: SLC2A1: 45C>T; Ala15Ala

PubMed Link: 27098784

Variant Present in the following documents:

• CMJ-129-1017.pdf

View BVdb publication page

---

Blepharospasm in a multiplex African-American pedigree.

Journal Of The Neurological Sciences

Xiao, Jianfeng J; Thompson, Misty M MM; Vemula, Satya R SR; LeDoux, Mark S MS

Publication Date: 2016-03-15

Variant appearance in text: N/A

PubMed Link: 26944167

Variant Present in the following documents:

View BVdb publication page

---

Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: SLC2A1: A15A; rs1385129

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 1
• mmc3.xlsx, sheet 2

View BVdb publication page

---

Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: SLC2A1: A15A; rs1385129

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

View BVdb publication page

---

Association of genetic variants with diabetic nephropathy.

World Journal Of Diabetes

Rizvi, Saliha S; Raza, Syed Tasleem ST; Mahdi, Farzana F

Publication Date: 2014-12-15

Variant appearance in text: rs1385129

PubMed Link: 25512783

Variant Present in the following documents:

• Main text

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: SLC2A1: A15A; rs1385129

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

---

Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency.

Bmc Pediatrics

Yubero, Delia D; O'Callaghan, Mar M; Montero, Raquel R; Ormazabal, Aida A; Armstrong, Judith J; Espinos, Carmina C; Rodríguez, Maria A MA; Jou, Cristina C; Castejon, Esperanza E; Aracil, Maria A MA; Cascajo, Maria V MV; Gavilan, Angela A; Briones, Paz P; Jimenez-Mallebrera, Cecilia C; Pineda, Mercedes M; Navas, Plácido P; Artuch, Rafael R

Publication Date: 2014-11-08

Variant appearance in text: rs1385129

PubMed Link: 25381171

Variant Present in the following documents:

• Main text
• 12887_2014_Article_284.pdf

View BVdb publication page

---

Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One

Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P

Publication Date: 2014

Variant appearance in text: SLC2A1: A15A

PubMed Link: 25333361

Variant Present in the following documents:

• pone.0109576.s002.xls, sheet 3
• pone.0109576.s001.xls, sheet 3
• pone.0109576.s003.xls, sheet 3

View BVdb publication page

---

Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio

Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M

Publication Date: 2014

Variant appearance in text: SLC2A1: A15A; rs1385129

PubMed Link: 24490137

Variant Present in the following documents:

• mmc5.xlsx, sheet 2

View BVdb publication page

---

Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science

Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2014-02

Variant appearance in text: SLC2A1: A15A; rs1385129

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD2.xlsx, sheet 1
• cas0105-0202-SD3.xlsx, sheet 1

View BVdb publication page

---

A 10 bp deletion polymorphism and 2 new variations in the GLUT1 gene associated with meningomyelocele.

Reproductive Sciences (Thousand Oaks, Calif.)

Cormier, Clint M CM; Au, Kit Sing KS; Northrup, Hope H

Publication Date: 2011-05

Variant appearance in text: rs1385129

PubMed Link: 21135204

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Genes in glucose metabolism and association with spina bifida.

Reproductive Sciences (Thousand Oaks, Calif.)

Davidson, Christina M CM; Northrup, Hope H; King, Terri M TM; Fletcher, Jack M JM; Townsend, Irene I; Tyerman, Gayle H GH; Au, Kit Sing KS

Publication Date: 2008-01

Variant appearance in text: rs1385129

PubMed Link: 18212354

Variant Present in the following documents:

• Main text

View BVdb publication page

---