Varaico: Literature-Extracted Genetic Variants

Gene:ADH5
Variant:p.R218Q
Back to variants list

ADH5

NM_000671.4:p.R218Q

Associated Papers

Homozygous Mutation in Human Serum Albumin and Its Implication on Thyroid Tests.

Mimoto MS et al.

Thyroid : Official Journal of the American Thyroid Association, 2018

Familial dysalbuminemic hyperthyroxinemia in a 4-year-old girl with hyperactivity, palpitations and advanced dental age: how gold standard assays may be misleading.

Choudhary A et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2015

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."