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Article

The proportion of mutations predicted to have a deleterious effect differs between gain and loss of function genes in neurodegenerative disease.

Human mutation - 1 Mar 2009

Valdmanis Paul N, Verlaan Dominique J, Rouleau Guy A

Abstract excerpt

As more studies are turning to bioinformatic prediction programs to assess the potential impact of amino acid substitutions, it is relevant to evaluate the prediction results these programs give in genes that have been well-characterized for Mendelian diseases. Eight genes responsible for neurodegenerative disease with many identified mutations were sub-grouped into those that either have a gain or loss of...

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Identifiers

PMID: 19105188
DOI: 10.1002/humu.20939

Genes

SOD1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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