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Article

Role of duplicate genes in determining the tissue-selectivity of hereditary diseases.

PLoS genetics - 1 May 2018

Barshir Ruth, Hekselman Idan, Shemesh Netta, Sharon Moran, Novack Lena, Yeger-Lotem Esti

Abstract excerpt

A longstanding puzzle in human genetics is what limits the clinical manifestation of hundreds of hereditary diseases to certain tissues, while their causal genes are expressed throughout the human body. A general conception is that tissue-selective disease phenotypes emerge when masking factors operate in unaffected tissues, but are specifically absent or insufficient in disease-manifesting tissues. Although this...

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Identifiers

PMID: 29723191
DOI: 10.1371/journal.pgen.1007327
PMCID: PMC5953478

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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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