Varaico: Literature-Extracted Genetic Variants

Gene:HHEX
Variant:p.A171T
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HHEX

NM_002729.5:p.A171T

Associated Papers

Mutational analysis for biotinidase deficiency of a Greek patients' cohort ascertained through expanded newborn screening.

Thodi G et al.

Journal of Human Genetics, 2011

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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."