Publications:

Late-Onset Bartter Syndrome Type II Due to a Novel Compound Heterozygous Mutation in KCNJ1 Gene: A Case Report and Literature Review.

Frontiers In Medicine

Tian, Mi M; Peng, Hui H; Bi, Xin X; Wang, Yan-Qiu YQ; Zhang, Yong-Zhe YZ; Wu, Yan Y; Zhang, Bei-Ru BR

Publication Date: 2022

Variant appearance in text: KCNJ1: 197T>A; Ile66Asn

PubMed Link: 35463019

Variant Present in the following documents:

• Main text
• fmed-09-862514.pdf

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Late-Onset Bartter Syndrome Type II Due to a Homozygous Mutation in KCNJ1 Gene: A Case Report and Literature Review.

The American Journal Of Case Reports

Elfert, Khaled A KA; Geller, David S DS; Nelson-Williams, Carol C; Lifton, Richard P RP; Al-Malki, Hassan H; Nauman, Awais A

Publication Date: 2020-09-30

Variant appearance in text: KCNJ1: 197T>A; Ile66Asn

PubMed Link: 32997650

Variant Present in the following documents:

• Main text
• amjcaserep-21-e924527.pdf

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Isolated nephrocalcinosis due to compound heterozygous mutations in renal outer medullary potassium channel.

Cen Case Reports

Khandelwal, Priyanka P; Sabanadesan, Jasintha J; Sinha, Aditi A; Hari, Pankaj P; Bagga, Arvind A

Publication Date: 2020-08

Variant appearance in text: KCNJ1: I66N

PubMed Link: 32185747

Variant Present in the following documents:

• Main text

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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: rs189845122

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

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Late-onset Bartter syndrome type II.

Clinical Kidney Journal

Gollasch, Benjamin B; Anistan, Yoland-Marie YM; Canaan-Kühl, Sima S; Gollasch, Maik M

Publication Date: 2017-10

Variant appearance in text: KCNJ1: 197T>A

PubMed Link: 28979772

Variant Present in the following documents:

• Main text
• sfx033.pdf

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