Varaico: Literature-Extracted Genetic Variants

Gene:XDH
Variant:p.D557N
Back to variants list

XDH

NM_000379.4:p.D557N

Associated Papers

Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine.

Zhou Y et al.

Science Advances, 2021

34516913 (PubMed )
Supplement: sciadv.abi6856_tables_s1_to_s8.zip › sciadv.abi6856_Table_S6.xlsx › Sheet1

Early Onset of Combined Oxidative Phosphorylation Deficiency in Two Chinese Brothers Caused by a Homozygous (Leu275Phe) Mutation in the C1QBP Gene.

Wang J et al.

Frontiers in Pediatrics, 2020

33344382 (PubMed )
Supplement: Table_2.XLSX › Result

Phenotype-Driven Virtual Panel Is an Effective Method to Analyze WES Data of Neurological Disease.

Wang X et al.

Frontiers in Pharmacology, 2018

30687093 (PubMed )
Supplement: Table_1.XLSX › Sheet1
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."