Varaico: Literature-Extracted Genetic Variants

Gene:EPHA3
Variant:p.M1T
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EPHA3

NM_005233.6:p.M1T

Associated Papers

Diamond-Blackfan anaemia caused by a de novo initiation codon mutation resulting in a shorter isoform of GATA1.

Chen T et al.

Clinical Genetics, 2022

Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiency.

Costa-Santos M et al.

The Journal of Clinical Endocrinology and Metabolism, 2004

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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."