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Thank you all for the responses, and yes I did incorrectly list the secondary mutation incorrectly and it should be D979A.
In regards to our daughters health, there still has been zero symptoms and while she is growing rapidly, thus throwing off her height/weight ratio, she has been fine. They...
Delta F508 + D979A
We have a recently diagnosed newborn with this rare combination. We have been fortunate enough to speak with several physicians both at Stanford and UCSF, we find ourself facing the great unknown.
Our daughter is 6 weeks old, had a positive newborn screening which resulted...
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