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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC22A5

Variant:p.P78S

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SLC22A5

NM_003060.4:p.P78S

hg38:chr5:132370204 C>T

Associated Papers

SLC22A5 Mutations in a Patient With Systemic Primary Carnitine Deficiency and Cleft Palate-Successful Perioperative Management.

Hu CW et al.

The Journal of Craniofacial Surgery, 2018

29750726 (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."