Varaico: Literature-Extracted Genetic Variants

Gene:SLC9A1
Variant:p.G305R
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SLC9A1

NM_003047.5:p.G305R

Associated Papers

Structure and mechanism of the human NHE1-CHP1 complex.

Dong Y et al.

Nature Communications, 2021

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

A novel SLC9A1 mutation causes cerebellar ataxia.

Iwama K et al.

Journal of Human Genetics, 2018

Mutation of SLC9A1, encoding the major Na⁺/H⁺ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome.

Guissart C et al.

Human Molecular Genetics, 2015

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

Li X et al.

Plos One, 2015

Lichtenstein-Knorr Syndrome: A Rare Case of Ataxia with Sensorineural Hearing Loss.

Hesarur N et al.

Annals of Indian Academy of Neurology, 0

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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."