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Article

Evaluating the effects of archaic protein-altering variants in living human adults.

Science advances - 12 Dec 2025

Molz Barbara, Alberro Mikel Lana, Eising Else, Schijven Dick, Alagöz Gökberk, Francks Clyde, Fisher Simon E

Abstract excerpt

Advances in paleogenetics allowed the identification of protein-coding changes unique to Homo sapiens by comparing present-day and archaic hominin genomes. So far, experimental validation has been restricted to functional assays and model organisms. Large-scale biobanking now makes it possible to directly assess phenotypic consequences in living adults. Querying exomes of 455,000 UK Biobank participants at 37...

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Identifiers

PMID: 41370394
DOI: 10.1126/sciadv.ads5703
PMCID: PMC12693971

Genes

SSH2
TKTL1

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