Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.L78R
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TTR

NM_000371.4:p.L78R

Associated Papers

Integrative structural profiling and ligand optimisation across the transthyretin mutational landscape.

Lomoio U et al.

Npj Systems Biology and Applications, 2025

40998828 (PubMed )
Supplement: 41540_2025_582_MOESM1_ESM.pdf

A narrative review and expert recommendations on the assessment of the clinical manifestations, follow-up, and management of post-OLT patients with ATTRv amyloidosis.

Casasnovas C et al.

Therapeutic Advances in Neurological Disorders, 2023

High Hereditary Transthyretin-Related Amyloidosis Prevalence in Crete: Genetic Heterogeneity and Distinct Phenotypes.

Tzagournissakis M et al.

Neurology. Genetics, 2022

Deterioration after Liver Transplantation and Transthyretin Stabilizer Administration in a Patient with ATTRv Amyloidosis with a Leu58Arg (p.Leu78Arg) TTR Variant.

Hikishima S et al.

Internal Medicine (tokyo, Japan), 2022

Population diversity of the genetically determined TTR expression in human tissues and its implications in TTR amyloidosis.

Iorio A et al.

Bmc Genomics, 2017

28335735 (PubMed )
Supplement: 12864_2017_3646_MOESM1_ESM.pdf

Ophthalmological manifestations of hereditary transthyretin amyloidosis.

Gondim FAA et al.

Arquivos Brasileiros De Oftalmologia, 0

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