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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KHSRP

Variant:p.Q179R

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KHSRP

NM_001366299.1:p.Q179R

hg38:chr19:6420084 T>C

Associated Papers

Carnitine-acylcarnitine translocase deficiency: experience with four cases in Spain and review of the literature.

Vitoria I et al.

Jimd Reports, 2015

25614308 (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."