Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.Q128delFs
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ENG

NM_001114753.3:p.Q128delFs

Associated Papers

uAUG creating variants in the 5'UTR of ENG causing Hereditary Hemorrhagic Telangiectasia.

Soukarieh O et al.

Npj Genomic Medicine, 2023

37848456 (PubMed )
Supplement: 41525_2023_378_MOESM3_ESM.xlsx › Carrier_of_ENG_c.-68GA
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