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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DHODH

Variant:p.K235_V236Splc

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DHODH

NM_001361.5:p.K235_V236Splc

hg38:chr16:72022361 G>T

Associated Papers

A case of D-bifunctional protein deficiency: clinical, biochemical and molecular investigations.

Ghirri P et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2011

21851493 (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."