Varaico: Literature-Extracted Genetic Variants

Gene:PDHA1
Variant:p.V389_S390delFs
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PDHA1

NM_000284.4:p.V389_S390delFs

Associated Papers

Clinical exome sequencing reveals a mutation in PDHA1 in Leigh syndrome: A case of a Chinese boy with lethal neuropathy.

Gong K et al.

Molecular Genetics & Genomic Medicine, 2021

[Report of a case with Alstrom syndrome].

Li M et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2004

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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."