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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CNKSR1

Variant:p.K369_S370Splc

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CNKSR1

NM_006314.3:p.K369_S370Splc

hg38:chr1:26184508 G>T

Associated Papers

Novel KIF7 missense substitutions in two patients presenting with multiple malformations and features of acrocallosal syndrome.

Tunovic S et al.

American Journal of Medical Genetics. Part A, 2015

26174511 (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."