Title : Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.

Pub. Date : 2017 Dec

PMID : 28902413






1 Functional Relationships(s)
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Compound Name
Protein Name
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1 In one patient, the plasma sphingolipid profile could functionally prove the pathogenicity of a mutation in SPTLC2. Sphingolipids serine palmitoyltransferase long chain base subunit 2 Homo sapiens