Publications:

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Creatine Deficiency Disorders: Phenotypes, Genotypes, Diagnosis, and Treatment Outcomes.

Turkish Archives Of Pediatrics

Mulik, Crystal C; Mercimek-Andrews, Saadet S

Publication Date: 2023-03

Variant appearance in text: PC: 1828G>A

PubMed Link: 36856349

Variant Present in the following documents:

• tap-58-2-129.pdf

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Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters

Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV

Publication Date: 2023-02

Variant appearance in text: PC: 1828G>A; A610T

PubMed Link: 36644153

Variant Present in the following documents:

• Supplementary_Data5.xlsx, sheet 1

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Prenatal onset of the neuroradiologic phenotype of pyruvate carboxylase deficiency due to homozygous PC c.1828G > A mutations.

Jimd Reports

Mhanni, Aizeddin A AA; Rockman-Greenberg, Cheryl C; Ryner, Lawrence L; Bunge, Martin M

Publication Date: 2021-09

Variant appearance in text: PC: A610T

PubMed Link: 34485016

Variant Present in the following documents:

• Main text
• JMD2-61-42.pdf

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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: PC: 1828G>A; Ala610Thr

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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A distinct holoenzyme organization for two-subunit pyruvate carboxylase.

Nature Communications

Choi, Philip H PH; Jo, Jeanyoung J; Lin, Yu-Cheng YC; Lin, Min-Han MH; Chou, Chi-Yuan CY; Dietrich, Lars E P LEP; Tong, Liang L

Publication Date: 2016-10-06

Variant appearance in text: PC: A610T

PubMed Link: 27708276

Variant Present in the following documents:

• Main text
• ncomms12713.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: PC: A610T; rs28940589

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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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: PC: A610T

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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A symmetrical tetramer for S. aureus pyruvate carboxylase in complex with coenzyme A.

Structure (London, England : 1993)

Yu, Linda P C LP; Xiang, Song S; Lasso, Gorka G; Gil, David D; Valle, Mikel M; Tong, Liang L

Publication Date: 2009-06-10

Variant appearance in text: PC: A610T

PubMed Link: 19523900

Variant Present in the following documents:

• Main text

View BVdb publication page

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Structure, mechanism and regulation of pyruvate carboxylase.

The Biochemical Journal

Jitrapakdee, Sarawut S; St Maurice, Martin M; Rayment, Ivan I; Cleland, W Wallace WW; Wallace, John C JC; Attwood, Paul V PV

Publication Date: 2008-08-01

Variant appearance in text: PC: A610T

PubMed Link: 18613815

Variant Present in the following documents:

• Main text

View BVdb publication page

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Transcarboxylase 5S structures: assembly and catalytic mechanism of a multienzyme complex subunit.

The Embo Journal

Hall, Pamela R PR; Zheng, Run R; Antony, Lizamma L; Pusztai-Carey, Marianne M; Carey, Paul R PR; Yee, Vivien C VC

Publication Date: 2004-09-15

Variant appearance in text: PC: A610T

PubMed Link: 15329673

Variant Present in the following documents:

• Main text

View BVdb publication page

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