Publications:

---

Machine Learning to Identify Genetic Salt-Losing Tubulopathies in Hypokalemic Patients.

Kidney International Reports

Wan, Elizabeth R ER; Iancu, Daniela D; Ashton, Emma E; Siew, Keith K; Mohidin, Barian B; Sung, Chih-Chien CC; Nagano, China C; Bockenhauer, Detlef D; Lin, Shih-Hua SH; Nozu, Kandai K; Walsh, Stephen B SB

Publication Date: 2023-03

Variant appearance in text: SLC12A3: 1261T>C; Cys421Arg

PubMed Link: 36938092

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

---

Cryo-EM structure of the human sodium-chloride cotransporter NCC.

Science Advances

Nan, Jing J; Yuan, Yafei Y; Yang, Xuemei X; Shan, Ziyang Z; Liu, Huihui H; Wei, Feiwen F; Zhang, Wei W; Zhang, Yanqing Y

Publication Date: 2022-11-11

Variant appearance in text: SLC12A3: C421R

PubMed Link: 36351028

Variant Present in the following documents:

• Main text
• sciadv.add7176.pdf

View BVdb publication page

---

Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region.

Frontiers In Genetics

Ramensky, Vasily E VE; Ershova, Alexandra I AI; Zaicenoka, Marija M; Kiseleva, Anna V AV; Zharikova, Anastasia A AA; Vyatkin, Yuri V YV; Sotnikova, Evgeniia A EA; Efimova, Irina A IA; Divashuk, Mikhail G MG; Kurilova, Olga V OV; Skirko, Olga P OP; Muromtseva, Galina A GA; Belova, Olga A OA; Rachkova, Svetlana A SA; Pokrovskaya, Maria S MS; Shalnova, Svetlana A SA; Meshkov, Alexey N AN; Drapkina, Oxana M OM

Publication Date: 2021

Variant appearance in text: SLC12A3: 1261T>C; Cys421Arg; rs28936387

PubMed Link: 34691145

Variant Present in the following documents:

• Data_Sheet_2.xlsx, sheet 3

View BVdb publication page

---

Examination of the predicted prevalence of Gitelman syndrome by ethnicity based on genome databases.

Scientific Reports

Kondo, Atsushi A; Nagano, China C; Ishiko, Shinya S; Omori, Takashi T; Aoto, Yuya Y; Rossanti, Rini R; Sakakibara, Nana N; Horinouchi, Tomoko T; Yamamura, Tomohiko T; Nagai, Sadayuki S; Okada, Eri E; Shima, Yuko Y; Nakanishi, Koichi K; Ninchoji, Takeshi T; Kaito, Hiroshi H; Takeda, Hiroki H; Nagase, Hiroaki H; Morisada, Naoya N; Iijima, Kazumoto K; Nozu, Kandai K

Publication Date: 2021-08-09

Variant appearance in text: SLC12A3: 1261T>C; Cys421Arg

PubMed Link: 34373523

Variant Present in the following documents:

• 41598_2021_95521_MOESM1_ESM.pdf

View BVdb publication page

---

Inherited salt-losing tubulopathies are associated with immunodeficiency due to impaired IL-17 responses.

Nature Communications

Evans, Rhys D R RDR; Antonelou, Marilina M; Sathiananthamoorthy, Sanchutha S; Rega, Marilena M; Henderson, Scott S; Ceron-Gutierrez, Lourdes L; Barcenas-Morales, Gabriela G; Müller, Christoph A CA; Doffinger, Rainer R; Walsh, Stephen B SB; Salama, Alan D AD

Publication Date: 2020-08-31

Variant appearance in text: SLC12A3: 1261T>C; Cys421Arg

PubMed Link: 32868758

Variant Present in the following documents:

• 41467_2020_18184_MOESM1_ESM.pdf

View BVdb publication page

---

Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: SLC12A3: 1261T>C; Cys421Arg

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

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: SLC12A3: C421R; rs28936387

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

---

Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs28936387

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

---

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: rs28936387

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

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: SLC12A3: C421R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

---