G6PC1 c.247C>T ;(p.R83C)

Variant ID: 17-41055964-C-T

NM_000151.3(G6PC1):c.247C>T;(p.R83C)

This variant was identified in 64 publications

View GRCh38 version.




Publications:


Urine-Derived Epithelial Cells as a New Model to Study Renal Metabolic Phenotypes of Patients with Glycogen Storage Disease 1a.

International Journal Of Molecular Sciences
Lenzini, Livia L; Iori, Elisabetta E; Scannapieco, Federico F; Carraro, Gianni G; Avogaro, Angelo A; Vitturi, Nicola N
Publication Date: 2022-12-23

Variant appearance in text: GSD1a: R83C
PubMed Link: 36613675
Variant Present in the following documents:
  • ijms-24-00232.pdf
View BVdb publication page



Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century.

Cell
Waldman, Shamam S; Backenroth, Daniel D; Harney, Éadaoin É; Flohr, Stefan S; Neff, Nadia C NC; Buckley, Gina M GM; Fridman, Hila H; Akbari, Ali A; Rohland, Nadin N; Mallick, Swapan S; Olalde, Iñigo I; Cooper, Leo L; Lomes, Ariel A; Lipson, Joshua J; Cano Nistal, Jorge J; Yu, Jin J; Barzilai, Nir N; Peter, Inga I; Atzmon, Gil G; Ostrer, Harry H; Lencz, Todd T; Maruvka, Yosef E YE; Lämmerhirt, Maike M; Beider, Alexander A; Rutgers, Leonard V LV; Renson, Virginie V; Prufer, Keith M KM; Schiffels, Stephan S; Ringbauer, Harald H; Sczech, Karin K; Carmi, Shai S; Reich, David D
Publication Date: 2022-11-22

Variant appearance in text: G6PC: R83C
PubMed Link: 36455558
Variant Present in the following documents:
  • NIHMS1852590-supplement-MMC2.xlsx, sheet 6
  • NIHMS1852590-supplement-MMC1.pdf
  • NIHMS1852590-supplement-MMC2.xlsx, sheet 1
View BVdb publication page



Molecular and clinical profiling in a large cohort of Asian Indians with glycogen storage disorders.

Plos One
Kumar, Tejashwini Vittal TV; Bhat, Meenakshi M; Narayanachar, Sanjeeva Ghanti SG; Narayan, Vinu V; Srikanth, Ambika K AK; Anikar, Swathi S; Shetty, Swathi S
Publication Date: 2022

Variant appearance in text: G6PC1: Arg83Cys
PubMed Link: 35834487
Variant Present in the following documents:
  • Main text
  • pone.0270373.pdf
View BVdb publication page



A Prospective Study on Continuous Glucose Monitoring in Glycogen Storage Disease Type Ia: Toward Glycemic Targets.

The Journal Of Clinical Endocrinology And Metabolism
Rossi, Alessandro A; Venema, Annieke A; Haarsma, Petra P; Feldbrugge, Lude L; Burghard, Rob R; Rodriguez-Buritica, David D; Parenti, Giancarlo G; Oosterveer, Maaike H MH; Derks, Terry G J TGJ
Publication Date: 2022-08-18

Variant appearance in text: G6PC1: Arg83Cys
PubMed Link: 35786777
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical features of gout in adult patients with type Ia glycogen storage disease: a single-centre retrospective study and a review of literature.

Arthritis Research & Therapy
Xu, Na N; Han, Xinxin X; Zhang, Yun Y; Huang, Xiaoming X; Zhu, Weiguo W; Shen, Min M; Zhang, Wen W; Jialin, Chen C; Wei, Min M; Qiu, Zhengqing Z; Zeng, Xuejun X
Publication Date: 2022-02-26

Variant appearance in text: G6PC: R83C
PubMed Link: 35219330
Variant Present in the following documents:
  • Main text
  • 13075_2021_Article_2706.pdf
View BVdb publication page



Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases
Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z
Publication Date: 2022-02-21

Variant appearance in text: G6PC: 247C>T
PubMed Link: 35193651
Variant Present in the following documents:
  • 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.

Cell Stem Cell
Merkle, Florian T FT; Ghosh, Sulagna S; Genovese, Giulio G; Handsaker, Robert E RE; Kashin, Seva S; Meyer, Daniel D; Karczewski, Konrad J KJ; O'Dushlaine, Colm C; Pato, Carlos C; Pato, Michele M; MacArthur, Daniel G DG; McCarroll, Steven A SA; Eggan, Kevin K
Publication Date: 2022-03-03

Variant appearance in text: G6PC: 247C>T; rs1801175
PubMed Link: 35176222
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
  • mmc5.xlsx, sheet 1
View BVdb publication page



Basic Principles and Clinical Applications of CRISPR-Based Genome Editing.

Yonsei Medical Journal
Lim, Jung Min JM; Kim, Hyongbum Henry HH
Publication Date: 2022-02

Variant appearance in text: G6PC: R83C
PubMed Link: 35083895
Variant Present in the following documents:
  • Main text
  • ymj-63-105.pdf
View BVdb publication page



Basic Principles and Clinical Applications of CRISPR-Based Genome Editing.

Yonsei Medical Journal
Lim, Jung Min JM; Kim, Hyongbum Henry HH
Publication Date: 2022-02

Variant appearance in text: G6PC: R83C
PubMed Link: 35083895
Variant Present in the following documents:
  • Main text
  • ymj-63-105.pdf
View BVdb publication page



Evaluation of Glycogen Storage Patients: Report of Twelve Novel Variants and New Clinical Findings in a Turkish Population.

Genes
Ersoy, Melike M; Uyanik, Bulent B; Gedikbasi, Asuman A
Publication Date: 2021-12-15

Variant appearance in text: G6PC: 247C>T
PubMed Link: 34946936
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evaluation of Glycogen Storage Patients: Report of Twelve Novel Variants and New Clinical Findings in a Turkish Population.

Genes
Ersoy, Melike M; Uyanik, Bulent B; Gedikbasi, Asuman A
Publication Date: 2021-12-15

Variant appearance in text: G6PC: 247C>T
PubMed Link: 34946936
Variant Present in the following documents:
  • Main text
View BVdb publication page



Early Identification of DMD in the Setting of West Syndrome.

Child Neurology Open
Razeq, Ahmed A; Ahmad, Samiya S
Publication Date: 2021

Variant appearance in text: G6PC: 247C>T
PubMed Link: 34869784
Variant Present in the following documents:
  • Main text
View BVdb publication page



DBS Screening for Glycogen Storage Disease Type 1a: Detection of c.648G>T Mutation in G6PC by Combination of Modified Competitive Oligonucleotide Priming-PCR and Melting Curve Analysis.

International Journal Of Neonatal Screening
Niba, Emma Tabe Eko ETE; Wijaya, Yogik Onky Silvana YOS; Awano, Hiroyuki H; Taniguchi, Naoko N; Takeshima, Yasuhiro Y; Nishio, Hisahide H; Shinohara, Masakazu M
Publication Date: 2021-11-16

Variant appearance in text: G6PC: R83C
PubMed Link: 34842616
Variant Present in the following documents:
  • Main text
View BVdb publication page



Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs.

Nutrients
Derks, Terry G J TGJ; Rodriguez-Buritica, David F DF; Ahmad, Ayesha A; de Boer, Foekje F; Couce, María L ML; Grünert, Sarah C SC; Labrune, Philippe P; López Maldonado, Nerea N; Fischinger Moura de Souza, Carolina C; Riba-Wolman, Rebecca R; Rossi, Alessandro A; Saavedra, Heather H; Gupta, Rupal Naik RN; Valayannopoulos, Vassili V; Mitchell, John J
Publication Date: 2021-10-27

Variant appearance in text: G6PC: 247C>T
PubMed Link: 34836082
Variant Present in the following documents:
  • Main text
  • nutrients-13-03828.pdf
View BVdb publication page



Cellular and metabolic effects of renin-angiotensin system blockade on glycogen storage disease type I nephropathy.

Human Molecular Genetics
Monteillet, Laure L; Labrune, Philippe P; Hochuli, Michel M; Do Cao, Jeremy J; Tortereau, Antonin A; Miliano, Alexane Cannella AC; Ardon-Zitoun, Carine C; Duchampt, Adeline A; Silva, Marine M; Verzieux, Vincent V; Mithieux, Gilles G; Rajas, Fabienne F
Publication Date: 2022-03-21

Variant appearance in text: G6PC1: 247C>T
PubMed Link: 34617103
Variant Present in the following documents:
  • ddab297.pdf
View BVdb publication page



Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Genome Medicine
Wang, Zishan Z; Fan, Xiao X; Shen, Yufeng Y; Pagadala, Meghana S MS; Signer, Rebecca R; Cygan, Kamil J KJ; Fairbrother, William G WG; Carter, Hannah H; Chung, Wendy K WK; Huang, Kuan-Lin KL
Publication Date: 2021-09-09

Variant appearance in text: G6PC: R83C
PubMed Link: 34503567
Variant Present in the following documents:
  • Main text
  • 13073_2021_964_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



A Case of Glycogen Storage Disease Type 1a Mimicking Familial Chylomicronemia Syndrome.

Balkan Journal Of Medical Genetics : Bjmg
Olgac, A A; Okur, I I; Biberoğlu, G G; Ezgü, F S FS; Tümer, L L
Publication Date: 2021-06

Variant appearance in text: G6PC: R83C
PubMed Link: 34447667
Variant Present in the following documents:
  • Main text
  • bjmg-24-103.pdf
View BVdb publication page



Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts.

Molecular Genetics & Genomic Medicine
Zeevi, David A DA; Chung, Wendy K WK; Levi, Chaim C; Scher, Sholem Y SY; Bringer, Rachel R; Kahan, Yael Y; Muallem, Hagit H; Benel, Rinat R; Hirsch, Yoel Y; Weiden, Tzvi T; Ekstein, Ahron A; Ekstein, Josef J
Publication Date: 2021-08

Variant appearance in text: G6PC: 247C>T; rs1801175
PubMed Link: 34288589
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1756.pdf
View BVdb publication page



Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts.

Molecular Genetics & Genomic Medicine
Zeevi, David A DA; Chung, Wendy K WK; Levi, Chaim C; Scher, Sholem Y SY; Bringer, Rachel R; Kahan, Yael Y; Muallem, Hagit H; Benel, Rinat R; Hirsch, Yoel Y; Weiden, Tzvi T; Ekstein, Ahron A; Ekstein, Josef J
Publication Date: 2021-08

Variant appearance in text: G6PC: 247C>T; rs1801175
PubMed Link: 34288589
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1756.pdf
View BVdb publication page



Classifying molecular phenotypes of G6PC variants for pathogenic properties and to guide therapeutic development.

Jimd Reports
Plona, Kathleen L KL; Eastman, Jean F JF; Drumm, Mitchell L ML
Publication Date: 2021-07

Variant appearance in text: G6PC: 247C>T
PubMed Link: 34258141
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism.

Jama Network Open
Liu, Ning N; Xiao, Jing J; Gijavanekar, Charul C; Pappan, Kirk L KL; Glinton, Kevin E KE; Shayota, Brian J BJ; Kennedy, Adam D AD; Sun, Qin Q; Sutton, V Reid VR; Elsea, Sarah H SH
Publication Date: 2021-07-01

Variant appearance in text: G6PC: 247C>T
PubMed Link: 34251446
Variant Present in the following documents:
  • jamanetwopen-e2114155-s001.pdf
View BVdb publication page



Neurological Characteristics of Pediatric Glycogen Storage Disease.

Frontiers In Endocrinology
Muzetti, Julio Henrique JH; do Valle, Daniel Almeida DA; Santos, Mara L S Ferreira MLSF; Telles, Bruno Augusto BA; Cordeiro, Mara L ML
Publication Date: 2021

Variant appearance in text: G6PC: 247C>T
PubMed Link: 34093448
Variant Present in the following documents:
  • Main text
  • fendo-12-685272.pdf
View BVdb publication page



A case study of glycogen storage disease type Ia presenting with multiple hepatocellular adenomas: an analysis by gadolinium ethoxybenzyl-diethylenetriamine-pentaacetic acid magnetic resonance imaging.

Quantitative Imaging In Medicine And Surgery
Li, Xiaoming X; Jing, Hui H; Cheng, Lin L; Xia, Jie J; Wang, Jian J; Li, Qing Q; Liu, Chen C; Cai, Ping P
Publication Date: 2021-06

Variant appearance in text: G6PC: 247C>T
PubMed Link: 34079743
Variant Present in the following documents:
  • Main text
View BVdb publication page



The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02

Variant appearance in text: G6PC: 247C>T; rs1801175
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



The rs2229611 (G6PC:c.*23 T>C) is associated with glycogen storage disease type Ia in Brazilian patients.

Molecular Genetics And Metabolism Reports
Pinheiro, Franciele Cabral FC; Sperb-Ludwig, Fernanda F; Fagundes Verch, Juliana Maria JM; Dos Santos, Bruna Bento BB; de Souza, Carolina Fischinger Moura CFM; Schwartz, Ida Vanessa Doederlein IVD
Publication Date: 2020-12

Variant appearance in text: G6PC: 247C>T
PubMed Link: 33101979
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Kaseniit, Kristjan E KE; Haque, Imran S IS; Goldberg, James D JD; Shulman, Lee P LP; Muzzey, Dale D
Publication Date: 2020-10

Variant appearance in text: G6PC: 247C>T
PubMed Link: 32595206
Variant Present in the following documents:
  • 41436_2020_869_MOESM2_ESM.xlsx, sheet 9
View BVdb publication page



Frequency of genomic secondary findings among 21,915 eMERGE network participants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
,
Publication Date: 2020-09

Variant appearance in text: G6PC: 247C>T
PubMed Link: 32546831
Variant Present in the following documents:
  • Main text
  • nihms-1615423.pdf
View BVdb publication page



Predominance of the c.648G > T G6PC gene mutation and late complications in Korean patients with glycogen storage disease type Ia.

Orphanet Journal Of Rare Diseases
Kim, Yoo-Mi YM; Choi, Jin-Ho JH; Lee, Beom-Hee BH; Kim, Gu-Hwan GH; Kim, Kyung-Mo KM; Yoo, Han-Wook HW
Publication Date: 2020-02-11

Variant appearance in text: G6PC: R83C
PubMed Link: 32046761
Variant Present in the following documents:
  • Main text
  • 13023_2020_Article_1321.pdf
View BVdb publication page



Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.

Scientific Reports
Xiang, Jiale J; Yang, Jiyun J; Chen, Lisha L; Chen, Qiang Q; Yang, Haiyan H; Sun, Chengcheng C; Zhou, Qing Q; Peng, Zhiyu Z
Publication Date: 2020-01-15

Variant appearance in text: G6PC: 247C>T
PubMed Link: 31942019
Variant Present in the following documents:
  • 41598_2019_57335_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Use of waxy maize heat modified starch in the treatment of children between 2 and 5 years with glycogen storage disease type I: A retrospective study.

Molecular Genetics And Metabolism Reports
Hijazi, Ghada G; Pai, Nisha N; Nagy, Laura L LL; Herd, Sarah S; Dickson, Jolynn J; Ram, Maya M; Inbar-Feigenberg, Michal M
Publication Date: 2019-12

Variant appearance in text: G6PC: 247C>T
PubMed Link: 31844626
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10

Variant appearance in text: rs1801175
PubMed Link: 31589614
Variant Present in the following documents:
  • pgen.1008409.s001.xlsx, sheet 1
View BVdb publication page



Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients.

Molecular Genetics & Genomic Medicine
Sperb-Ludwig, Fernanda F; Pinheiro, Franciele Cabral FC; Bettio Soares, Malu M; Nalin, Tatiele T; Ribeiro, Erlane Marques EM; Steiner, Carlos Eduardo CE; Ribeiro Valadares, Eugênia E; Porta, Gilda G; Fishinger Moura de Souza, Carolina C; Schwartz, Ida Vanessa Doederlein IVD
Publication Date: 2019-11

Variant appearance in text: G6PC: Arg83Cys
PubMed Link: 31508908
Variant Present in the following documents:
  • Main text
  • MGG3-7-e877-s001.xlsx, sheet 1
  • MGG3-7-e877.pdf
View BVdb publication page



Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network.

American Journal Of Human Genetics
, ; ,
Publication Date: 2019-09-05

Variant appearance in text: rs1801175
PubMed Link: 31447099
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular diagnosis of glycogen storage disease type I: a review.

Excli Journal
Beyzaei, Zahra Z; Geramizadeh, Bita B
Publication Date: 2019

Variant appearance in text: G6PC: 247C>T
PubMed Link: 30956637
Variant Present in the following documents:
  • Main text
  • EXCLI-18-30.pdf
View BVdb publication page



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: G6PC: 247C>T
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page



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: G6PC: R83C; rs1801175
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Biological Pathways Leading From ANGPTL8 to Diabetes Mellitus-A Co-expression Network Based Analysis.

Frontiers In Physiology
Siddiqa, Amnah A; Cirillo, Elisa E; Tareen, Samar H K SHK; Ali, Amjad A; Kutmon, Martina M; Eijssen, Lars M T LMT; Ahmad, Jamil J; Evelo, Chris T CT; Coort, Susan L SL
Publication Date: 2018

Variant appearance in text: rs1801175
PubMed Link: 30627105
Variant Present in the following documents:
  • Main text
  • fphys-09-01841.pdf
View BVdb publication page



Applying filtration steps to interpret the results of whole-exome sequencing in a consanguineous population to achieve a high detection rate.

International Journal Of Health Sciences
Alfares, Ahmed A AA
Publication Date: 2018

Variant appearance in text: G6PC: 247C>T
PubMed Link: 30202406
Variant Present in the following documents:
  • IJHS-12-35.pdf
View BVdb publication page



Recent development and gene therapy for glycogen storage disease type Ia.

Liver Research
Chou, Janice Y JY; Kim, Goo-Young GY; Cho, Jun-Ho JH
Publication Date: 2017-09

Variant appearance in text: G6PC: R83C
PubMed Link: 29576889
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21

Variant appearance in text: rs1801175
PubMed Link: 29245897
Variant Present in the following documents:
  • oncotarget-08-99237-s002.xlsx, sheet 1
View BVdb publication page



The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

Human Genetics
Monies, Dorota D; Abouelhoda, Mohamed M; AlSayed, Moeenaldeen M; Alhassnan, Zuhair Z; Alotaibi, Maha M; Kayyali, Husam H; Al-Owain, Mohammed M; Shah, Ayaz A; Rahbeeni, Zuhair Z; Al-Muhaizea, Mohammad A MA; Alzaidan, Hamad I HI; Cupler, Edward E; Bohlega, Saeed S; Faqeih, Eissa E; Faden, Maha M; Alyounes, Banan B; Jaroudi, Dyala D; Goljan, Ewa E; Elbardisy, Hadeel H; Akilan, Asma A; Albar, Renad R; Aldhalaan, Hesham H; Gulab, Shamshad S; Chedrawi, Aziza A; Al Saud, Bandar K BK; Kurdi, Wesam W; Makhseed, Nawal N; Alqasim, Tahani T; El Khashab, Heba Y HY; Al-Mousa, Hamoud H; Alhashem, Amal A; Kanaan, Imaduddin I; Algoufi, Talal T; Alsaleem, Khalid K; Basha, Talal A TA; Al-Murshedi, Fathiya F; Khan, Sameena S; Al-Kindy, Adila A; Alnemer, Maha M; Al-Hajjar, Sami S; Alyamani, Suad S; Aldhekri, Hasan H; Al-Mehaidib, Ali A; Arnaout, Rand R; Dabbagh, Omar O; Shagrani, Mohammad M; Broering, Dieter D; Tulbah, Maha M; Alqassmi, Amal A; Almugbel, Maisoon M; AlQuaiz, Mohammed M; Alsaman, Abdulaziz A; Al-Thihli, Khalid K; Sulaiman, Raashda A RA; Al-Dekhail, Wajeeh W; Alsaegh, Abeer A; Bashiri, Fahad A FA; Qari, Alya A; Alhomadi, Suzan S; Alkuraya, Hisham H; Alsebayel, Mohammed M; Hamad, Muddathir H MH; Szonyi, Laszlo L; Abaalkhail, Faisal F; Al-Mayouf, Sulaiman M SM; Almojalli, Hamad H; Alqadi, Khalid S KS; Elsiesy, Hussien H; Shuaib, Taghreed M TM; Seidahmed, Mohammed Zain MZ; Abosoudah, Ibraheem I; Akleh, Hana H; AlGhonaium, Abdulaziz A; Alkharfy, Turki M TM; Al Mutairi, Fuad F; Eyaid, Wafa W; Alshanbary, Abdullah A; Sheikh, Farrukh R FR; Alsohaibani, Fahad I FI; Alsonbul, Abdullah A; Al Tala, Saeed S; Balkhy, Soher S; Bassiouni, Randa R; Alenizi, Ahmed S AS; Hussein, Maged H MH; Hassan, Saeed S; Khalil, Mohamed M; Tabarki, Brahim B; Alshahwan, Saad S; Oshi, Amira A; Sabr, Yasser Y; Alsaadoun, Saad S; Salih, Mustafa A MA; Mohamed, Sarar S; Sultana, Habiba H; Tamim, Abdullah A; El-Haj, Moayad M; Alshahrani, Saif S; Bubshait, Dalal K DK; Alfadhel, Majid M; Faquih, Tariq T; El-Kalioby, Mohamed M; Subhani, Shazia S; Shah, Zeeshan Z; Moghrabi, Nabil N; Meyer, Brian F BF; Alkuraya, Fowzan S FS
Publication Date: 2017-08

Variant appearance in text: G6PC: 247C>T
PubMed Link: 28600779
Variant Present in the following documents:
  • 439_2017_1821_MOESM1_ESM.xlsx, sheet 1
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: G6PC: 247C>T
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Tarailo-Graovac, Maja M; Zhu, Jing Yun Alice JYA; Matthews, Allison A; van Karnebeek, Clara D M CDM; Wasserman, Wyeth W WW
Publication Date: 2017-12

Variant appearance in text: G6PC: R83C; rs1801175
PubMed Link: 28471432
Variant Present in the following documents:
  • Main text
  • gim201750x2.xlsx, sheet 3
  • gim201750a.pdf
View BVdb publication page



Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control.

Journal Of Inherited Metabolic Disease
Peeks, Fabian F; Steunenberg, Thomas A H TAH; de Boer, Foekje F; Rubio-Gozalbo, M Estela ME; Williams, Monique M; Burghard, Rob R; Rajas, Fabienne F; Oosterveer, Maaike H MH; Weinstein, David A DA; Derks, Terry G J TGJ
Publication Date: 2017-09

Variant appearance in text: G6PC: R83C
PubMed Link: 28397058
Variant Present in the following documents:
  • Main text
  • 10545_2017_Article_39.pdf
View BVdb publication page



Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.

Bmc Medical Genomics
Gal, Moran M; Khermesh, Khen K; Barak, Michal M; Lin, Min M; Lahat, Hadas H; Reznik Wolf, Haike H; Lin, Michael M; Pras, Elon E; Levanon, Erez Y EY
Publication Date: 2016-05-13

Variant appearance in text: G6PC: R83C
PubMed Link: 27175728
Variant Present in the following documents:
  • 12920_2016_184_MOESM1_ESM.xls, sheet 1
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Tophaceous gout in a female premenopausal patient with an unexpected diagnosis of glycogen storage disease type Ia: a case report and literature review.

Clinical Rheumatology
Zhang, Bingqing B; Zeng, Xuejun X
Publication Date: 2016-11

Variant appearance in text: G6PC: 247C>T
PubMed Link: 27139513
Variant Present in the following documents:
  • Main text
  • 10067_2016_Article_3290.pdf
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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: rs1801175
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
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Development of a Targeted Multi-Disorder High-Throughput Sequencing Assay for the Effective Identification of Disease-Causing Variants.

Plos One
Delio, Maria M; Patel, Kunjan K; Maslov, Alex A; Marion, Robert W RW; McDonald, Thomas V TV; Cadoff, Evan M EM; Golden, Aaron A; Greally, John M JM; Vijg, Jan J; Morrow, Bernice B; Montagna, Cristina C
Publication Date: 2015

Variant appearance in text: G6PC: 247C>T
PubMed Link: 26214305
Variant Present in the following documents:
  • Main text
  • pone.0133742.pdf
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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: G6PC: R83C
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
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