TY  - JOUR

T1  - Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease

JO  - Genome Medicine

UR  - https://doi.org/10.1186/s13073-025-01464-2

PY  - 2025/04/14

AU  - Martin-Geary AC

AU  - Blakes AJM

AU  - Dawes R

AU  - Findlay SD

AU  - Lord J

AU  - Dong S

AU  - Walker S

AU  - Talbot-Martin J

AU  - Wieder N

AU  - D’Souza EN

AU  - Fernandes M et al

ED  - 

DO  - DOI: 10.1186/s13073-025-01464-2

PB  - Springer Science and Business Media LLC

VL  - 17

IS  - 1

Y2  - 2026/01/25

ER  -