MisterDucky92 t1_irhkvcq wrote on October 8, 2022 at 5:28 AM 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 Permalink Parent 1
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