Three Newly Recognized Likely Pathogenic Gene Variants Associated with Hereditary Transthyretin Amyloidosis.

Jignesh K PatelAndrew M RosenAdam ChamberlinBenjamin FeldmannChristian AntolikHeather ZimmermannTami JohnstonArvind Narayana

Published in: Neurology and therapy (2022)

Based on several lines of evidence, three TTR VUS were reclassified as VLP, resulting in a high likelihood of disease diagnosis for those and subsequent patients as well as at-risk family members.

Keyphrases

end stage renal disease
copy number
ejection fraction
newly diagnosed
chronic kidney disease
prognostic factors
peritoneal dialysis
genome wide
patient reported outcomes
multiple myeloma
dna methylation