A schema for sporadic and heritable disease pathogenesis integrating spatiotemporal distribution with the character of genetic variants
Studies on HIF-2α variants have shed light on genotype-phenotype correlations in Pacak-Zhuang syndrome. Here, we propose the combination of the timing of variant acquisition and molecular pathogenicity into a schema to understand phenotypic severity, with implications for other diseases.
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Portfolio
2025-08-01
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| Series: | Communications Medicine |
| Online Access: | https://doi.org/10.1038/s43856-025-01039-7 |
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