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Summary of mutations in Blomstrand chondrodysplasia and PFE patients.

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https://figshare.com/articles/dataset/_Summary_of_mutations_in_Blomstrand_chondrodysplasia_and_PFE_patients_/802709
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¤#Mutations found in both PFE and Blomstrand chondrodysplasia patients. #c.1148G>A was initially suspected a classic missense mutation, but was later shown to affect correct mRNA splicing.
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2013-09-18
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