PMC Articles for MedGen (Select 220946) - PMC - NCBI

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Select item 11819511.

Ribose-5-Phosphate Isomerase Deficiency: New Inborn Error in the Pentose Phosphate Pathway Associated with a Slowly Progressive Leukoencephalopathy

Jojanneke H. J. Huck, Nanda M. Verhoeven, Eduard A. Struys, Gajja S. Salomons, Cornelis Jakobs, Marjo S. van der Knaap

Am J Hum Genet. 2004 Apr; 74(4): 745–751. Published online 2004 Feb 25. doi: 10.1086/383204

PMCID:: PMC1181951

Abstract Article PDF–267K

Select item 40576182.

A framework for application of metabolic modeling in yeast to predict the effects of nsSNV in human orthologs

Hayley Dingerdissen, Daniel S Weaver, Peter D Karp, Yang Pan, Vahan Simonyan, Raja Mazumder

Biol Direct. 2014; 9: 9. Published online 2014 Jun 3. doi: 10.1186/1745-6150-9-9

PMCID:: PMC4057618

Abstract Article PDF–2.4M

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PMC Articles for MedGen (Select 220946) (2)
PMC
Gene Links for OMIM (Select 608611) (1)
Gene
RPIA ribose 5-phosphate isomerase A [Homo sapiens]
RPIA ribose 5-phosphate isomerase A [Homo sapiens]
Gene ID:22934

Gene
Taxonomy Links for Nucleotide (Select 104530340) (1)
Taxonomy
ankyrin repeat and BTB/POZ domain-containing protein 3 isoform a [Homo sapiens]
ankyrin repeat and BTB/POZ domain-containing protein 3 isoform a [Homo sapiens]
gi|65786661|ref|NP_001018082.1|

Protein

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