Associated Papers
Precision Grounding: Augmenting Large Language Models with Evidence-Based Databases for Trustworthy Genetic Variant Summarization.
Du X et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40585076 (PubMed )
Supplement: media-3.xlsx › Table_S6
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
ARP-T1-associated Bazex-Dupré-Christol syndrome is an inherited basal cell cancer with ciliary defects characteristic of ciliopathies.
Park HS et al.
Communications Biology, 2021
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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