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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHP1

Variant:p.F117Splc

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CHP1

NM_007236.5:p.F117Splc

hg38:chr15:41262888 G>T

Associated Papers

Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South Spain.

Bueno MA et al.

Journal of Human Genetics, 2013

23514811 (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."