Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A2
Variant:p.L422P
Back to variants list

SLC19A2

NM_006996.3:p.L422P

Associated Papers

Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics.

Patel KA et al.

Diabetologia, 2022

34686905 (PubMed )
Supplement: 125_2021_5597_MOESM1_ESM.pdf

Case Report: Genetic and Clinical Features of Maternal Uniparental Isodisomy-Induced Thiamine-Responsive Megaloblastic Anemia Syndrome.

Kang P et al.

Frontiers in Pediatrics, 2021

A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome.

Odaman-Al I et al.

The Turkish Journal of Pediatrics, 2019

A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome.

Odaman-Al I et al.

The Turkish Journal of Pediatrics, 2019

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."