Varaico: Literature-Extracted Genetic Variants

Gene:CLEC18C
Variant:p.A174V
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CLEC18C

NM_173619.4:p.A174V

Associated Papers

A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability.

Chia PH et al.

Elife, 2018

Human primary liver cancer-derived organoid cultures for disease modeling and drug screening.

Broutier L et al.

Nature Medicine, 2017

29131160 (PubMed )
Supplement: NIHMS74480-supplement-Supplementary_Dataset_4.xlsx › S1_HCC-1_coding_SNVs
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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."