GenomicsbioRxivPreprint
Convergent evolution of somatic escape variants in SERPINA1 in the liver in alpha-1 anti-trypsin deficiency
Natalia Brzozowska, Lily Wu, Vera Khodzhaeva…·Matthew Hoare
The paper identifies convergent somatic escape variants in SERPINA1 in A1AT deficiency patients, showing adaptive mutations that counteract the disease-causing germline variant.
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