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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
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Andrea Mignarri et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2014)
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Shuke Nie et al.
ORPHANET JOURNAL OF RARE DISEASES (2014)
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Gilad Yahalom et al.
CLINICAL NEUROPHARMACOLOGY (2013)
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Sunghwan Suh et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2012)
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B. Pilo-de-la-Fuente et al.
EUROPEAN JOURNAL OF NEUROLOGY (2011)
Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene
G. N. Gallus et al.
NEUROLOGICAL SCIENCES (2006)
Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis
A Verrips et al.
BRAIN (2000)