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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DPT

Variant:p.Q49delFs

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DPT

NM_001937.5:p.Q49delFs

hg38:chr1:168729029 TG>T

Associated Papers

Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia.

Ozgul RK et al.

European Journal of Medical Genetics, 2014

25220015 (PubMed )

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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."