Associated Papers
Biallelic and monoallelic variants in EFEMP1 can cause a severe and distinct subtype of heritable connective tissue disorder.
Mol MO et al.
European Journal of Human Genetics : Ejhg, 2024
EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder.
Forghani I et al.
American Journal of Medical Genetics. Part A, 2024
A high definition picture of somatic mutations in chronic lymphoproliferative disorder of natural killer cells.
Gasparini VR et al.
Blood Cancer Journal, 2020
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