Varaico: Literature-Extracted Genetic Variants

Gene:TIMM8A
Variant:p.W44_E45Splc
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TIMM8A

NM_004085.4:p.W44_E45Splc

Associated Papers

Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort.

Moon D et al.

Genes, 2021

35052368 (PubMed )
Supplement: genes-13-00027-s001.zip › genes-1495226-supplementary.pdf

Phenotype prediction of Mohr-Tranebjaerg syndrome (MTS) by genetic analysis and initial auditory neuropathy.

Wang H et al.

Bmc Medical Genetics, 2019

The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome.

Ha AD et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2012

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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."