Associated Papers
Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort.
Stark JC et al.
Genome Medicine, 2025
Novel biallelic SASS6 variants associated with primary microcephaly and fetal growth restriction.
Kong X et al.
American Journal of Medical Genetics. Part A, 2024
Case Report: Prenatal Recurrent Microcephaly and Corpus Callosum Abnormalities in a Chinese Family with Novel Biallelic SASS6 Mutations.
Wah YMI et al.
Fetal Diagnosis and Therapy, 2023
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