The functional consequences of missense variants are often difficult to predict. This becomes especially relevant when DNA sequence changes are used to determine a diagnosis or prognosis. To analyze the consequences of 12 missense variants in patients with mild forms of ataxia-telangiectasia (A-T),
A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia
✍ Scribed by M. J. van Belzen; Johan A. P. Hiel; Corry M. R. Weemaes; F. J. M. Gabreëls; Baziel G. M. van Engelen; Dominique F. C. M. Smeets; L. P. W. J. van den Heuvel
- Publisher
- Springer
- Year
- 1998
- Tongue
- English
- Weight
- 126 KB
- Volume
- 102
- Category
- Article
- ISSN
- 0340-6717
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