Associated Papers
Novel mutation leading to splice donor loss in a conserved site of DMD gene causes Duchenne muscular dystrophy with cryptorchidism.
Chen J et al.
Journal of Medical Genetics, 2024
Whole genome sequencing identifies genetic variants associated with neurogenic inflammation in rosacea.
Deng Z et al.
Nature Communications, 2023
37402769 (PubMed )
Supplement: 41467_2023_39761_MOESM5_ESM.xlsx › original
Genetic and functional analysis of SHROOM1-4 in a Chinese neural tube defect cohort.
Chen Z et al.
Human Genetics, 2018
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