Varaico: Literature-Extracted Genetic Variants

Gene:TENT5C
Variant:p.T318I
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TENT5C

NM_017709.4:p.T318I

Associated Papers

Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences.

Manshaei R et al.

Frontiers in Genetics, 2020

33110418 (PubMed )
Supplement: Data_Sheet_2.zip › SupplementaryTables_FrontiersInGenetics › Supplementary_Table_S1__Ultra-rare_variants_observed_for_231_CHD_samples_including_gnomAD_o_e_constraint_scores.XLSX › All_Missense_Variants

FAM46 proteins are novel eukaryotic non-canonical poly(A) polymerases.

Kuchta K et al.

Nucleic Acids Research, 2016

27060136 (PubMed )
Supplement: supp_gkw222_nar-00609-n-2016-File007.zip › TableS4.pdf
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