Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.V422insFs
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BTD

NM_001370658.1:p.V422insFs

Associated Papers

Molecular analysis of guanidinoacetate-n-methyltransferase (GAMT) and creatine transporter (SLC6A8) gene by using denaturing high pressure liquid chromatography (DHPLC) as a possible source of human male infertility.

Iqbal F et al.

Pakistan Journal of Pharmaceutical Sciences, 2011

Analysis of mutations causing biotinidase deficiency.

Pindolia K et al.

Human Mutation, 2010

The identification of novel mutations in the biotinidase gene using denaturing high pressure liquid chromatography (dHPLC).

Iqbal F et al.

Molecular Genetics and Metabolism, 2010

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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."