Genotype-phenotype correlation in patients with isovaleric acidaemia: comparative structural modelling and computational analysis of novel variants.

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A profound computational study to prioritize the disease-causing mutations in PRPS1 gene.An Integrated Computational Framework to Assess the Mutational Landscape of α-L-Iduronidase IDUA Gene.

P2860

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P2860

Genotype-phenotype correlation in patients with isovaleric acidaemia: comparative structural modelling and computational analysis of novel variants.

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2017 nî lūn-bûn

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Genotype-phenotype correlation ...... al analysis of novel variants.

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Genotype-phenotype correlation ...... al analysis of novel variants.

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Genotype-phenotype correlation ...... al analysis of novel variants.

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P1476

Genotype-phenotype correlation ...... al analysis of novel variants.

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P2093

Bilal N Nasr

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Ghadeer G Murad

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Heba S A El Abd

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Maryam S A Ebnou

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Ola Khalifa

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Radwa Gamal

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Salsabil A Ali

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Shaima A Elashi

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Thirumal Kumar D

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P2860

Different spectrum of mutations of isovaleryl-CoA dehydrogenase (IVD) gene in Korean patients with isovaleric acidemia

Isovaleric acidemia: a new genetic defect of leucine metabolism

SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling

GROMACS 4.5: a high-throughput and highly parallel open source molecular simulation toolkit.

Two patients with Canavan disease and structural modeling of a novel mutation.

Determining the role of missense mutations in the POU domain of HNF1A that reduce the DNA-binding affinity: A computational approach.

Predicting deleterious nsSNPs: an analysis of sequence and structural attributes.

Nucleotide sequence of messenger RNA encoding human isovaleryl-coenzyme A dehydrogenase and its expression in isovaleric acidemia fibroblasts.

Human Splicing Finder: an online bioinformatics tool to predict splicing signals.

Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity

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3105-3115

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scholarly article

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10.1093/HMG/DDX195

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P478

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Hatem Zayed

George Priya Doss C

Osama K. Zaki

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2017-05-23T00:00:00Z

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28535199

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Genotype-phenotype correlation in patients with isovaleric acidaemia: comparative structural modelling and computational analysis of novel variants.

about

P2860

P2860

Genotype-phenotype correlation in patients with isovaleric acidaemia: comparative structural modelling and computational analysis of novel variants.

description

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type

label

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P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698