Associated Papers
The co-chaperone DNAJA2 buffers proteasomal degradation of cytosolic proteins with missense mutations.
Baker HA et al.
Journal of Cell Science, 2025
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM8_ESM.xlsx › SD4_-_HGMD_Mutations
Diagnostic exome sequencing identifies GLI2 haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomalies.
Sajan SA et al.
Clinical Case Reports, 2018
29988648 (PubMed )
Supplement: CCR3-6-1208-s002.xlsx › Table_S1
Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.
Yu F et al.
Plos One, 2015
25807536 (PubMed )
Supplement: pone.0121644.s002.xls › n962_HGMD_Uniprot.GO131
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