Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.E86D
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TTR

NM_000371.4:p.E86D

Associated Papers

Novel Pathogenic Variant c.258A>C, p.(Glu86Asp) in the TTR Gene in a Bulgarian Patient with Hereditary Transthyretin Amyloidosis.

Pavlova Z et al.

Genes, 2025

Prevalence estimation of ATTRv in China based on genetic databases.

Yongsheng Z et al.

Frontiers in Genetics, 2023

37124609 (PubMed )
Supplement: DataSheet1.PDF

Hereditary Transthyretin Amyloidosis- Clinical and Genetic Characteristics of a Multiracial South-East Asian Cohort in Singapore.

Chen Z et al.

Journal of Neuromuscular Diseases, 2021

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