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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SORT1

Variant:p.S147Splc

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SORT1

NM_002959.7:p.S147Splc

hg38:chr1:109367231 A>C

Associated Papers

GPSM2 and Chudley-McCullough syndrome: a Dutch founder variant brought to North America.

Almomani R et al.

American Journal of Medical Genetics. Part A, 2013

23494849 (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."