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Updated: Jan 18, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

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与吉特曼综合征相关的SLC12A3中的新型致病基因型:一个病例报告

Patricia Tomás-Simó1, Antonio Sierra-Rivera2, Ana Checa-Ros3

  • 1Nephrology Department, Consorcio Hospital General Universitario de Valencia, Valencia, Spain.

Nephrology (Carlton, Vic.)
|September 13, 2025
PubMed
概括

吉特曼综合征 (GS) 是一种常见的遗传性脏疾病. 在一名患者和她的孩子身上发现了一种新的SLC12A3基因变异,这表明这种罕见遗传疾病的潜在致病性.

关键词:
在 SLC12A3 中.根据ACMG的标准,我们可以吉特曼综合征 (Gitelman综合征) 是一种低血糖症 (hypokalemia) 是一种疾病.这是下一代测序.病原性 病原性 病原性

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