The role of protein structural analysis in the next generation sequencing era.
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Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiencyFrom structural biology to designing therapy for inborn errors of metabolismSDS, a structural disruption score for assessment of missense variant deleteriousness.Single nucleotide variations: biological impact and theoretical interpretation.Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
P2860
The role of protein structural analysis in the next generation sequencing era.
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The role of protein structural analysis in the next generation sequencing era.
@ast
The role of protein structural analysis in the next generation sequencing era.
@en
type
label
The role of protein structural analysis in the next generation sequencing era.
@ast
The role of protein structural analysis in the next generation sequencing era.
@en
prefLabel
The role of protein structural analysis in the next generation sequencing era.
@ast
The role of protein structural analysis in the next generation sequencing era.
@en
P356
P1476
The role of protein structural analysis in the next generation sequencing era
@en
P2093
Paul E Brennan
Wyatt W Yue
P2888
P356
10.1007/128_2012_326
P577
2014-01-01T00:00:00Z