Varaico: Literature-Extracted Genetic Variants

Gene:CSH2
Variant:p.W112*
Back to variants list

CSH2

NM_020991.4:p.W112*

Associated Papers

Urine creatine metabolite panel as a screening test in neurodevelopmental disorders.

Bahl S et al.

Orphanet Journal of Rare Diseases, 2020

33267903 (PubMed )
Supplement: 13023_2020_1617_MOESM1_ESM.docx
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."