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Search results for keyword '34400365':
- annotated PLOD mutations (1)
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- LH1 SER178ARG (PLOD1 c.534C>A) - ClinVar - View
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- registered publications (1)
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- Koenig SN, Cavus O, Williams J, Bernier M, Tonniges J, Sucharki H, Dew T, Akel M, Baker P, Madiai F, De Giorgi F, Scietti L, Faravelli S, Forneris F, Mohler PJ, Bradley EA (2021). "New Mechanistic Insights to PLOD1-mediated Human Vascular Disease." Transl Res (in press) - 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table below is currently showing ALL MUTATION TYPES yielding ALL PHENOTYPES on ALL PROTEINS, Regardless if PUBLISHED or UNPUBLISHED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 "34400365".
SiMPLOD ID Isoenzyme Mutation Disease phenotype CLINVAR Reference papers Viewer
SiMPLOD1-178 Lysyl Hydroxylase 1 (human) LH1 SER178ARG
(PLOD1 c.534C>A)		 Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa)
Uncertain significance		 459821 View

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