Varaico: Literature-Extracted Genetic Variants

Gene:IVD
Variant:p.H129R
Back to variants list

IVD

NM_002225.5:p.H129R

Associated Papers

Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes.

Guo Y et al.

Orphanet Journal of Rare Diseases, 2023

37308883 (PubMed )
Supplement: 13023_2023_2726_MOESM1_ESM.xlsx › Table_S1

Genetic mutation profile of isovaleric acidemia patients in Taiwan.

Lin WD et al.

Molecular Genetics and Metabolism, 2007

Isovaleric acidemia diagnosed promptly by tandem mass spectrometry: report of one case.

Wei CC et al.

Acta Paediatrica Taiwanica = Taiwan Er Ke Yi Xue Hui Za Zhi, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."