Varaico: Literature-Extracted Genetic Variants

Gene:KANK1
Variant:p.G1002E
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KANK1

NM_015158.5:p.G1002E

Associated Papers

The NESHIE and CP Genetics Resource (NCGR): A database of genes and variants reported in neonatal encephalopathy with suspected hypoxic ischemic encephalopathy (NESHIE) and consequential cerebral palsy (CP).

Holborn MA et al.

Genomics, 2022

36270382 (PubMed )
Supplement: mmc11.xlsx › study_variants

Targeted resequencing identifies genes with recurrent variation in cerebral palsy.

van Eyk CL et al.

Npj Genomic Medicine, 2019

31700678 (PubMed )
Supplement: 41525_2019_101_MOESM1_ESM.pdf
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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."