TY  - JOUR

T1  - Genomic technologies identify milder presentations of Mendelian disease

JO  - European Journal of Human Genetics

UR  - http://dx.doi.org/10.1038/s41431-024-01682-z

PY  - 2024/09/02

AU  - McNeill A

ED  - 

DO  - DOI: 10.1038/s41431-024-01682-z

PB  - Springer Science and Business Media LLC

VL  - 32

IS  - 9

SP  - 1033

EP  - 1034

Y2  - 2024/12/22

ER  -