H Syndrome: A Case Report and Review of Literature
PMID: 29527032
GeneName: SLC29A3
HGNC: HGNC:23096
Disease: H syndrome
MonDO ID: MONDO:0011273
Inheritance: AR
no genetic testing performed
3 Matching Annotations
- Last 7 days
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu
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H syndrome: The first 79 patients
PMID: 24172204
GeneName: SLC29A3
HGNC: HGNC:23096
Disease: H syndrome
MonDO ID: MONDO:0011273
Inheritance: AR
great review of cases to curate
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Equilibrative nucleoside transporter 3 deficiency perturbs lysosome function and macrophage homeostasis
PMID: 22174130
GeneName: SLC29A3
HGNC: HGNC:23096
Disease: H syndrome
MonDO ID: MONDO:0011273
Inheritance: AR
potential mouse model showing histiocytosis and biochemical function
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