Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.L6L
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TTR

NM_000371.4:p.L6L

Associated Papers

Nonamyloidogenic TTR gene variants c.76G>A and c.337-18G>C are not associated with idiopathic small-fiber neuropathy.

Konecki C et al.

European Journal of Neurology, 2024

Incidence of nonamyloidogenic mutations in the transthyretin gene in patients with autonomic and small fiber neuropathy.

Levine TD et al.

Muscle & Nerve, 2018

An outline of inherited disorders of the thyroid hormone generating system.

Knobel M et al.

Thyroid : Official Journal of the American Thyroid Association, 2003

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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."