Varaico: Literature-Extracted Genetic Variants

Gene:TBL1X
Variant:p.A166A
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TBL1X

NM_005647.4:p.A166A

Associated Papers

Investigation of GSDME results in the identification of the first pathogenic synonymous variants and genotype-phenotype correlations.

Chin JJ et al.

Human Genetics, 2025

41020988 (PubMed )
Supplement: 439_2025_2782_MOESM1_ESM.xlsx › MORL-3
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