Varaico: Literature-Extracted Genetic Variants

Gene:STEAP3
Variant:p.T495M
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STEAP3

NM_182915.3:p.T495M

Associated Papers

Deconvoluting the Complexity of Congenital Sideroblastic Anemias through Genetic and Functional Profiling.

Alnoor F et al.

The Journal of Molecular Diagnostics : Jmd, 2024

Comparing rare variants versus common in the pathogenesis of nonalcoholic fatty liver disease: a whole exome sequencing approach.

Bale G et al.

Journal of Gastroenterology and Hepatology, 2024

Association of genetic variants with response to iron supplements in pregnancy.

Athiyarath R et al.

Genes & Nutrition, 2015

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1696.600
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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."