Varaico: Literature-Extracted Genetic Variants

Gene:SLC9A1
Variant:p.N266H
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SLC9A1

NM_003047.5:p.N266H

Associated Papers

Role of Genetic Mutations of the Na+/H+ Exchanger Isoform 1, in Human Disease and Protein Targeting and Activity.

Fliegel L

Molecular and Cellular Biochemistry, 2021

Autozygome and high throughput confirmation of disease genes candidacy.

Maddirevula S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30237576 (PubMed )
Supplement: 41436_2018_138_MOESM2_ESM.xlsx › Table_1

A novel SLC9A1 mutation causes cerebellar ataxia.

Iwama K et al.

Journal of Human Genetics, 2018

A novel human mutation in the SLC9A1 gene results in abolition of Na+/H+ exchanger activity.

Li X et al.

Plos One, 2015

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."