Associated Papers
Toward clinical exomes in diagnostics and management of male infertility.
Lillepea K et al.
American Journal of Human Genetics, 2024
Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome.
Liu Y et al.
The British Journal of Dermatology, 2022
Pathogenic Variants in ACTRT1 Cause Acephalic Spermatozoa Syndrome.
Sha Y et al.
Frontiers in Cell and Developmental Biology, 2021
Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas.
Bal E et al.
Nature Medicine, 2017
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