Varaico: Literature-Extracted Genetic Variants

Gene:SLIRP
Variant:p.S33Splc
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SLIRP

NM_031210.6:p.S33Splc

Associated Papers

Pathogenic SLIRP variants as a novel cause of autosomal recessive mitochondrial encephalomyopathy with complex I and IV deficiency.

Guo L et al.

European Journal of Human Genetics : Ejhg, 2021

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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."