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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MED12

Variant:p.S1127P

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MED12

NM_005120.3:p.S1127P

hg38:chrX:71128622 T>C

Associated Papers

MED12 variants associated with X-linked recessive partial epilepsy without intellectual disability.

Yang JH et al.

Seizure, 2024

36894399 (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."