Varaico: Literature-Extracted Genetic Variants

Gene:SERAC1
Variant:p.R447*
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SERAC1

NM_032861.4:p.R447*

Associated Papers

[Analysis of six children with 3-methylglutaconic aciduria].

Ling SY et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2021

Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.

Maas RR et al.

Annals of Neurology, 2017

Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome - implications from a multi-center retrospective cohort study.

Roesch S et al.

Molecular Genetics and Metabolism, 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."