Found: 3
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Frequency and distribution of NF2 mutations in schwannomas.
- Published in:
- Genes, Chromosomes & Cancer, 1996, v. 17, n. 1, p. 45, doi. 10.1002/(SICI)1098-2264(199609)17:1<45::AID-GCC7>3.0.CO;2-2
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- Publication type:
- Article
Mutations in the Gene DNAJC5 Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families.
- Published in:
- PLoS ONE, 2012, v. 7, n. 1, p. 1, doi. 10.1371/journal.pone.0029729
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- Publication type:
- Article
An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation.
- Published in:
- BMC Medical Genetics, 2012, v. 13, n. 1, p. 50, doi. 10.1186/1471-2350-13-50
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- Article