Exome sequencing‐aided precise diagnosis of four families with type I Stickler syndrome
Runyi Tian(Central South University), Qi Tian(Central South University)
Cited by 5
Related Papers
Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy
|Human Genetics|2020|29
Bi-Allelic Loss-of-Function Variant in MAN1B1 Cause Rafiq Syndrome and Developmental Delay
|International Journal of Molecular Sciences|2025|1