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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC22A3

Variant:p.L114P

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SLC22A3

NM_021977.4:p.L114P

hg38:chr6:160348760 T>C

Associated Papers

HOIL-1L deficiency induces cell cycle alteration which causes immaturity of skeletal muscle and cardiomyocytes.

Akagi K et al.

Scientific Reports, 2024

38632277 (PubMed )

Supplement: 41598_2024_57504_MOESM1_ESM.pdf

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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."