Associated Papers
Expanding the spectrum of Darier disease variants: 13 novel ATP2A2 genetic variations discovered in an Italian retrospective analysis.
Stefani C et al.
Gene, 2026
Alternative start codon selection shapes mitochondrial function and rare human diseases.
Ly J et al.
Molecular Cell, 2025
41205602 (PubMed )
Supplement: NIHMS2117943-supplement-MMC5.xlsx › Missense_ISAs
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