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Article

Systematic Cell-Based Phenotyping of Missense Alleles.

Methods in molecular biology (Clifton, N.J.) - 1 Jan 2017

Thormählen Aenne S, Runz Heiko

Abstract excerpt

Sequencing of the protein-coding genome, the exome, has proven powerful to unravel links between genetic variation and disease for both Mendelian and complex conditions. Importantly, however, the increasing number of sequenced human exomes and mapping of disease-associated alleles is accompanied by a simultaneous, yet exponential increase in the overall number of rare and low frequency alleles identified. For...

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Share to DNA, Complementary
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28470529
DOI: 10.1007/978-1-4939-6960-9_17

Genes

LDLR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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