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Search results for keyword '8981946':
- annotated PLOD mutations (1)
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- LH1 ASN587ARG;GLY592ALA;PRO597ARGFS (PLOD1 c.[1760_1761delACinsGA; 1775_1788del; 1790C>G]) - View
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- registered publications (1)
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- Heikkinen, J., T. Toppinen, H. Yeowell, T. Krieg, B. Steinmann, K. I. Kivirikko and R. Myllyla (1997). "Duplication of seven exons in the lysyl hydroxylase gene is associated with longer forms of a repetitive sequence within the gene and is a common cause for the type VI variant of Ehlers-Danlos syndrome." Am J Hum Genet 60(1): 48-56. - 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table below is currently showing ALL MUTATION TYPES yielding ALL PHENOTYPES on ALL PROTEINS, Regardless if PUBLISHED or UNPUBLISHED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 "8981946".
SiMPLOD ID Isoenzyme Mutation Disease phenotype CLINVAR Reference papers Viewer
SiMPLOD1-328 Lysyl Hydroxylase 1 (human) LH1 ASN587ARG;GLY592ALA;PRO597ARGFS
(PLOD1 c.[1760_1761delACinsGA; 1775_1788del; 1790C>G])		 Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa)
Pathogenic		 NA Heikkinen et al., 1997 View

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