Varaico: Literature-Extracted Genetic Variants

Gene:TMEM30A
Variant:p.L289F
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TMEM30A

NM_001143958.2:p.L289F

Associated Papers

Case report: Identification of a recurrent pathogenic DHDDS mutation in Chinese family with epilepsy, intellectual disability and myoclonus.

Dong Y et al.

Frontiers in Genetics, 2023

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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."