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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SMDT1

Variant:p.V48_I49delFs

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SMDT1

NM_033318.5:p.V48_I49delFs

hg38:chr22:42079905 GGTCA>G

Associated Papers

SMDT1 variants impair EMRE-mediated mitochondrial calcium uptake in patients with muscle involvement.

Bulthuis EP et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2023

37454773 (PubMed )

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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."