HNF1A c.51C>G ;(p.L17=)

Variant ID: 12-121416622-C-G

NM_000545.5(HNF1A):c.51C>G;(p.L17=)

This variant was identified in 30 publications

View GRCh38 version.




Publications:


Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: HNF1A: L17L; rs1169289
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



A novel splice-affecting HNF1A variant with large population impact on diabetes in Greenland.

The Lancet Regional Health. Europe
Thuesen, Anne Cathrine Baun ACB; Stæger, Frederik Filip FF; Kaci, Alba A; Solheim, Marie Holm MH; Aukrust, Ingvild I; Jørsboe, Emil E; Santander, Cindy G CG; Andersen, Mette K MK; Li, Zilong Z; Gilly, Arthur A; Stinson, Sara Elizabeth SE; Gjesing, Anette Prior AP; Bjerregaard, Peter P; Pedersen, Michael Lynge ML; Larsen, Christina Viskum Lytken CVL; Grarup, Niels N; Jørgensen, Marit E ME; Zeggini, Eleftheria E; Bjørkhaug, Lise L; Njølstad, Pål Rasmus PR; Albrechtsen, Anders A; Moltke, Ida I; Hansen, Torben T
Publication Date: 2023-01

Variant appearance in text: HNF1A: 51C>G
PubMed Link: 36649380
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Clinical Characteristics and Gene Mutations of Two Families with MODY 3 in Inner Mongolia.

Pharmacogenomics And Personalized Medicine
Ren, Xiao-Yan XY; Xue, Meng-Ruo MR; Yan, Zhao-Li ZL; Zhang, Shao-Jie SJ; Liu, Min M; Li, Ai-Zhen AZ
Publication Date: 2022

Variant appearance in text: HNF1α: 51C>G; L17l
PubMed Link: 36567880
Variant Present in the following documents:
  • Main text
  • pgpm-15-1019.pdf
View BVdb publication page



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: HNF1A: L17L; rs1169289
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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: HNF1A: L17L; rs1169289
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
View BVdb publication page



A comprehensive next generation sequencing tissue assay for Asian-prevalent cancers-Analytical validation and performance evaluation with clinical samples.

Frontiers In Molecular Biosciences
Ng, Cedric Chuan-Young CC; Lim, Sandy S; Lim, Abner Herbert AH; Md Nasir, Nur Diyana ND; Zhang, Jingxian J; Rajasegaran, Vikneswari V; Lee, Jing Yi JY; Kok, Jessica Sook Ting JST; Thike, Aye Aye AA; Lim, Johnathan Xiande JX; Weng, Ruifen R; Yee, Sidney S; Choudhury, Yukti Y; Chan, Jason Yongsheng JY; Tan, Puay Hoon PH; Tan, Min-Han MH; Teh, Bin Tean BT
Publication Date: 2022

Variant appearance in text: HNF1A: L17L
PubMed Link: 36213130
Variant Present in the following documents:
  • DataSheet1.xlsx, sheet 10
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: HNF1A: L17L; rs1169289
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



Molecular and clinical assessment of maturity-onset diabetes of the young revealed low mutational rate in Moroccan families.

International Journal Of Pediatrics & Adolescent Medicine
Trhanint, Said S; Bouguenouch, Laila L; Abourazzak, Sana S; El Ouahabi, Hanan H; Latrech, Hanane H; Benyakhlef, Salma S; Bennani, Bahia B; El Bouchikhi, Ihssane I; Moufid, Fatima Zahra FZ; Ouldim, Karim K; El Ghadraoui, Lahsen L; Maazouzi, Nadia N
Publication Date: 2022-06

Variant appearance in text: HNF1A: L17L; rs1169289
PubMed Link: 35663783
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



HNF1A:From Monogenic Diabetes to Type 2 Diabetes and Gestational Diabetes Mellitus.

Frontiers In Endocrinology
Li, Li-Mei LM; Jiang, Bei-Ge BG; Sun, Liang-Liang LL
Publication Date: 2022

Variant appearance in text: MODY3: 51C>G; L17L
PubMed Link: 35299962
Variant Present in the following documents:
  • DataSheet_1.pdf
View BVdb publication page



Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Journal Of Cancer Research And Clinical Oncology
Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S
Publication Date: 2022-03-05

Variant appearance in text: N/A
PubMed Link: 35246724
Variant Present in the following documents:
View BVdb publication page



Metastatic colorectal cancer and type 2 diabetes: prognostic and genetic interactions.

Molecular Oncology
Ottaiano, Alessandro A; Circelli, Luisa L; Santorsola, Mariachiara M; Savarese, Giovanni G; Fontanella, Daniela D; Gigantino, Valerio V; Di Mauro, Annabella A; Capuozzo, Maurizio M; Zappavigna, Silvia S; Lombardi, Angela A; Perri, Francesco F; Cascella, Marco M; Granata, Vincenza V; Capuozzo, Maurizio M; Nasti, Guglielmo G; Caraglia, Michele M
Publication Date: 2022-01

Variant appearance in text: HNF1A: 51C>G; rs1169289
PubMed Link: 34668636
Variant Present in the following documents:
  • Main text
  • MOL2-16-319.pdf
View BVdb publication page



Metastatic colorectal cancer and type 2 diabetes: prognostic and genetic interactions.

Molecular Oncology
Ottaiano, Alessandro A; Circelli, Luisa L; Santorsola, Mariachiara M; Savarese, Giovanni G; Fontanella, Daniela D; Gigantino, Valerio V; Di Mauro, Annabella A; Capuozzo, Maurizio M; Zappavigna, Silvia S; Lombardi, Angela A; Perri, Francesco F; Cascella, Marco M; Granata, Vincenza V; Capuozzo, Maurizio M; Nasti, Guglielmo G; Caraglia, Michele M
Publication Date: 2021-10-20

Variant appearance in text: HNF1A: 51C>G; rs1169289
PubMed Link: 34668636
Variant Present in the following documents:
  • Main text
  • MOL2-16-319.pdf
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: HNF1A: Leu17Leu; rs1169289
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.

Saudi Journal Of Biological Sciences
Aboul-Soud, Mourad A M MAM; Alzahrani, Alhussain J AJ; Mahmoud, Amer A
Publication Date: 2021-01

Variant appearance in text: HNF1A: L17L; rs1169289
PubMed Link: 33424349
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Unsupervised Clustering of Missense Variants in HNF1A Using Multidimensional Functional Data Aids Clinical Interpretation.

American Journal Of Human Genetics
Althari, Sara S; Najmi, Laeya A LA; Bennett, Amanda J AJ; Aukrust, Ingvild I; Rundle, Jana K JK; Colclough, Kevin K; Molnes, Janne J; Kaci, Alba A; Nawaz, Sameena S; van der Lugt, Timme T; Hassanali, Neelam N; Mahajan, Anubha A; Molven, Anders A; Ellard, Sian S; McCarthy, Mark I MI; Bjørkhaug, Lise L; Njølstad, Pål Rasmus PR; Gloyn, Anna L AL
Publication Date: 2020-10-01

Variant appearance in text: HNF1A: 51C>G; Leu17=
PubMed Link: 32910913
Variant Present in the following documents:
  • Main text
  • mmc6.pdf
  • main.pdf
View BVdb publication page



A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.

Journal Of Medical Case Reports
García-Cárdenas, Jennyfer M JM; Zambrano, Ana Karina AK; Guevara-Ramírez, Patricia P; Guerrero, Santiago S; Runruil, Gabriel G; López-Cortés, Andrés A; Torres-Yaguana, Jorge P JP; Armendáriz-Castillo, Isaac I; Pérez-Villa, Andy A; Yumiceba, Verónica V; Leone, Paola E PE; Paz-Y-Miño, César C
Publication Date: 2020-08-31

Variant appearance in text: HNF1A: 51C>G; Leu17=
PubMed Link: 32867815
Variant Present in the following documents:
  • 13256_2020_2451_MOESM1_ESM.xlsx, sheet 1
  • 13256_2020_2451_MOESM1_ESM.xlsx, sheet 3
  • 13256_2020_2451_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Journal Of Cellular And Molecular Medicine
Wu, Nan N; Zhang, Zhen Z; Zhou, Xi X; Zhao, Hengqiang H; Ming, Yue Y; Wu, Xue X; Zhang, Xian X; Yang, Xin-Zhuang XZ; Zhou, Meng M; Bao, Hua H; Chen, Weisheng W; Wu, Yong Y; Liu, Sen S; Wang, Huizi H; Niu, Yuchen Y; Li, Yalun Y; Zheng, Yu Y; Shao, Yang Y; Gao, Na N; Yang, Ying Y; Liu, Ying Y; Li, Wenli W; Liu, Jia J; Zhang, Na N; Yang, Xu X; Xu, Yuan Y; Li, Mei M; Sun, Yingli Y; Su, Jianzhong J; Zhang, Jianguo J; Xia, Weibo W; Qiu, Guixing G; Liu, Yong Y; Liu, Jiaqi J; Wu, Zhihong Z
Publication Date: 2020-05

Variant appearance in text: HNF1A: 51C>G; Leu17=
PubMed Link: 32277576
Variant Present in the following documents:
  • JCMM-24-4931-s010.xlsx, sheet 1
View BVdb publication page



Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders
Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M
Publication Date: 2020-02-11

Variant appearance in text: N/A
PubMed Link: 32046637
Variant Present in the following documents:
View BVdb publication page



Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Publication Date: 2020-02-10

Variant appearance in text: HNF1A: 51C>G; Leu17=
PubMed Link: 32041611
Variant Present in the following documents:
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
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



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: HNF1A: L17L; rs1169289
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Acta Neuropathologica Communications
Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C
Publication Date: 2019-08-30

Variant appearance in text: HNF1A: L17L; rs1169289
PubMed Link: 31470906
Variant Present in the following documents:
  • 40478_2019_793_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Targeted next generation sequencing as a tool for precision medicine.

Bmc Medical Genomics
Gulilat, Markus M; Lamb, Tyler T; Teft, Wendy A WA; Wang, Jian J; Dron, Jacqueline S JS; Robinson, John F JF; Tirona, Rommel G RG; Hegele, Robert A RA; Kim, Richard B RB; Schwarz, Ute I UI
Publication Date: 2019-06-03

Variant appearance in text: HNF1A: L17L; rs1169289
PubMed Link: 31159795
Variant Present in the following documents:
  • 12920_2019_527_MOESM1_ESM.xlsx, sheet 6
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: HNF1A: 51C>G; rs1169289
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
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: N/A
PubMed Link: 29974678
Variant Present in the following documents:
View BVdb publication page



Maturity onset diabetes of the young due to HNF1A variants in Croatia.

Biochemia Medica
Pavić, Tamara T; Juszczak, Agata A; Pape Medvidović, Edita E; Burrows, Carla C; Šekerija, Mario M; Bennett, Amanda J AJ; Ćuća Knežević, Jadranka J; Gloyn, Anna L AL; Lauc, Gordan G; McCarthy, Mark I MI; Gornik, Olga O; Owen, Katharine R KR
Publication Date: 2018-06-15

Variant appearance in text: HNF1A: L17L
PubMed Link: 29666556
Variant Present in the following documents:
  • Main text
  • bm-28-2-020703.pdf
View BVdb publication page



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: HNF1A: 51C>G; Leu17=
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
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: HNF1A: L17L; rs1169289
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 3
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: HNF1A: L17L; rs1169289
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Association of exome sequences with plasma C-reactive protein levels in >9000 participants.

Human Molecular Genetics
Schick, Ursula M UM; Auer, Paul L PL; Bis, Joshua C JC; Lin, Honghuang H; Wei, Peng P; Pankratz, Nathan N; Lange, Leslie A LA; Brody, Jennifer J; Stitziel, Nathan O NO; Kim, Daniel S DS; Carlson, Christopher S CS; Fornage, Myriam M; Haessler, Jeffery J; Hsu, Li L; Jackson, Rebecca D RD; Kooperberg, Charles C; Leal, Suzanne M SM; Psaty, Bruce M BM; Boerwinkle, Eric E; Tracy, Russell R; Ardissino, Diego D; Shah, Svati S; Willer, Cristen C; Loos, Ruth R; Melander, Olle O; Mcpherson, Ruth R; Hovingh, Kees K; Reilly, Muredach M; Watkins, Hugh H; Girelli, Domenico D; Fontanillas, Pierre P; Chasman, Daniel I DI; Gabriel, Stacey B SB; Gibbs, Richard R; Nickerson, Deborah A DA; Kathiresan, Sekar S; Peters, Ulrike U; Dupuis, Josée J; Wilson, James G JG; Rich, Stephen S SS; Morrison, Alanna C AC; Benjamin, Emelia J EJ; Gross, Myron D MD; Reiner, Alex P AP; , ; ,
Publication Date: 2015-01-15

Variant appearance in text: HNF1A: Leu17=; rs1169289
PubMed Link: 25187575
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variants of the HNF1α gene: A molecular approach concerning diabetic patients from southern Brazil.

Genetics And Molecular Biology
Bonatto, Naieli N; Nogaroto, Viviane V; Svidnicki, Paulo V PV; Milléo, Fábio Q FQ; Grassiolli, Sabrina S; Almeida, Mara C MC; Vicari, Marcelo R MR; Artoni, Roberto F RF
Publication Date: 2012-12

Variant appearance in text: MODY3: L17L
PubMed Link: 23271932
Variant Present in the following documents:
  • Main text
  • gmb-35-737.pdf
View BVdb publication page