Data Mining for the Identification of Known and Candidate Transthyretin Amyloidosis Variants in the Saudi Population

Abstract excerpt

<title>Abstract</title> <p>BackgroundFamilial transthyretin (TTR) amyloidosis (ATTR) is an autosomal dominant disease with significant phenotypic heterogeneity. Its prevalence in Saudi Arabia has not previously been investigated. An existing exome variant database of Saudi individuals, sequenced to globally investigate rare diseases in the population, was mined for <italic>TTR </italic>variants and filtered for m...

Topics

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• Amyloid Neuropathies, Familial
• Data Mining
• Gene Frequency
• Genetic Testing
• Mutation, Missense
• Prealbumin
• Saudi Arabia
• Young Adult

Identifiers and source

Literature Corpus work

d4f69caa-5534-5112-96ba-576c039a3906

DOI

10.21203/rs.3.rs-386081/v1