Submitted by soygang t3_xy2vlm in askscience
MisterDucky92 t1_irhkvcq wrote
Reply to comment by -Metacelsus- in How common are genetic mutations in conception? by soygang
A very good example of de novo Mutation having a direct and pathogenic effect (while still viable) is de novo Mutation on the CTNNB1 gene.
And a month ago it has been confirmed to be an actual diagnosis of a syndrome
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