Varaico: Literature-Extracted Genetic Variants

Gene:HSD3B7
Variant:p.G17fs
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HSD3B7

NM_025193.4:p.G17fs

Associated Papers

Effect of Genetic Testing on Diagnosing Gastrointestinal Pediatric Patients with Previously Undiagnosed Diseases.

Altamimi E et al.

The Application of Clinical Genetics, 2020

Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates.

Al-Shamsi A et al.

Orphanet Journal of Rare Diseases, 2016

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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."