Varaico: Literature-Extracted Genetic Variants

Gene:SMPX
Variant:p.I73fs
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SMPX

NM_014332.3:p.I73fs

Associated Papers

A novel missense mutation in SMPX causes a rare form of X-linked postlingual sensorineural hearing loss in a Chinese family.

Guo Y et al.

Translational Pediatrics, 2021

Whole-exome sequencing identifies a donor splice-site variant in SMPX that causes rare X-linked congenital deafness.

Lv Y et al.

Molecular Genetics & Genomic Medicine, 2019

Skewed X-chromosome inactivation and next-generation sequencing to identify a novel SMPX variants associated with X-linked hearing loss in a Chinese family.

Gao S et al.

International Journal of Pediatric Otorhinolaryngology, 2018

A novel mutation in the SMPX gene associated with X-linked nonsyndromic sensorineural hearing loss in a Chinese family.

Deng Y et al.

Journal of Human Genetics, 2018

A novel splicing mutation in SMPX is linked to nonsyndromic progressive hearing loss.

Niu Z et al.

International Journal of Pediatric Otorhinolaryngology, 2018

A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family.

Niu Z et al.

Plos One, 2017

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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."