Varaico: Literature-Extracted Genetic Variants

Gene:TMTC2
Variant:p.E187K
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TMTC2

NM_152588.3:p.E187K

Associated Papers

Rare damaging variants in the sex differences of congenital heart disease: an exome sequencing study.

Sun H et al.

Ebiomedicine, 2025

40347836 (PubMed )
Supplement: mmc3.xlsx › Supplementary_Table_7

Case Report: Characterization of a Novel NONO Intronic Mutation in a Fetus With X-Linked Syndromic Mental Retardation-34.

Sun H et al.

Frontiers in Genetics, 2020

33304389 (PubMed )
Supplement: Data_Sheet_1.xlsx › Supplemental_Table_3
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