Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.S43R
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TTR

NM_000371.4:p.S43R

Associated Papers

Clinical differential factors in patients with hereditary transthyretin amyloidosis with Val142Ile and Ser43Asn mutations.

Castellar-Leones SM et al.

Orphanet Journal of Rare Diseases, 2024

Estimating the prevalence of allelic variants in the transthyretin gene by analysing large-scale sequencing data.

Lahuerta Pueyo C et al.

European Journal of Human Genetics : Ejhg, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."