Publications:

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Renal Hypouricemia 1: Rare Disorder as Common Disease in Eastern Slovakia Roma Population.

Biomedicines

Stiburkova, Blanka B; Bohatá, Jana J; Pavelcová, Kateřina K; Tasic, Velibor V; Plaseska-Karanfilska, Dijana D; Cho, Sung-Kweon SK; Potočnaková, Ludmila L; Šaligová, Jana J

Publication Date: 2021-11-03

Variant appearance in text: rs2276963

PubMed Link: 34829836

Variant Present in the following documents:

• Main text
• biomedicines-09-01607.pdf

View BVdb publication page

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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: SLC2A9: 150+65C>T; rs2276963

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Evaluation of the Influence of Genetic Variants of SLC2A9 (GLUT9) and SLC22A12 (URAT1) on the Development of Hyperuricemia and Gout.

Journal Of Clinical Medicine

Pavelcova, Katerina K; Bohata, Jana J; Pavlikova, Marketa M; Bubenikova, Eliska E; Pavelka, Karel K; Stiburkova, Blanka B

Publication Date: 2020-08-04

Variant appearance in text: SLC2A9: 150+65C>T; rs2276963

PubMed Link: 32759716

Variant Present in the following documents:

• Main text
• jcm-09-02510.pdf

View BVdb publication page

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Amplicon targeted resequencing for SLC2A9 and SLC22A12 identified novel mutations in hypouricemia subjects.

Molecular Genetics & Genomic Medicine

Zhou, Zhaowei Z; Wang, Ke K; Zhou, Juan J; Wang, Can C; Li, Xinde X; Cui, Lingling L; Han, Lin L; Liu, Zhen Z; Ren, Wei W; Wang, Xuefeng X; Zhang, Keke K; Li, Zhiqiang Z; Pan, Dun D; Li, Changgui C; Shi, Yongyong Y

Publication Date: 2019-07

Variant appearance in text: rs2276963

PubMed Link: 31131560

Variant Present in the following documents:

• MGG3-7-e00722-s002.xlsx, sheet 2

View BVdb publication page

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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: rs2276963

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1
• Table_6.xlsx, sheet 1

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs2276963

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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