Varaico: Literature-Extracted Genetic Variants

Gene:SIGLEC12
Variant:p.G17W
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SIGLEC12

NM_053003.4:p.G17W

Associated Papers

MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy.

Bugiardini E et al.

Human Molecular Genetics, 2019

31039582 (PubMed )
Supplement: hmg-2019-d-00137_bugiardini_r1_supplementary_table_s1_ddz093.xlsx › Supplementary_table
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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."