Novel IDUA variant confirmed in MPS I as embryo screening yields healthy child
A novel IDUA variant, c.1379T>C (p.Leu460Pro), has been linked to MPS I for the first time, and preimplantation genetic testing ...
Tag: mutation spectrum
Chicken genome study reveals males pass on twice as many new mutations as females
Whole-genome sequencing of 194 chicken trios from a commercial pedigree line yields the largest direct germline mutation rate estimate in ...
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