WES identified one compound heterozygous variation in the DYNC2H1(NM_001080463.2) gene, namely c.2386C>T(p.R796W) and c.7289T>C(p.I2430T)
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WES detected a compound heterozygous variation in the DYNC2H1 gene with two variants, c.2386C>T and c.7289T>C. In agreement with autosomal-recessive segregation, the parents were heterozygous for these two variants, respectively: the father carried the heterozygous c.2386C>T variant while the mother carried the c.7289T>C variant.
创建时间：
2022-12-16
