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Search results for keyword '10502784':
- annotated PLOD mutations (1)
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- LH1 ASN052GLNFS (PLOD1 c.153_154insC) - View
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- registered publications (1)
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- Heikkinen, J., B. Pousi, M. Pope and R. Myllyla (1999). "A null-mutated lysyl hydroxylase gene in a compound heterozygote British patient with Ehlers-Danlos syndrome type VI." Hum Mutat 14(4): 351. - DOI - PubMed - Mutations
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The table below is currently showing ALL MUTATION TYPES yielding ALL PHENOTYPES on ALL PROTEINS, Regardless if PUBLISHED or UNPUBLISHED
with records containing the keyword "10502784".
SiMPLOD ID Isoenzyme Mutation Disease phenotype CLINVAR Reference papers Viewer
SiMPLOD1-317 Lysyl Hydroxylase 1 (human) LH1 ASN052GLNFS
(PLOD1 c.153_154insC)		 Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa)
Pathogenic		 NA Heikkinen et al., 1999 View

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