Varaico: Literature-Extracted Genetic Variants

Gene:ABCC10
Variant:p.M1K
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ABCC10

NM_001198934.2:p.M1K

Associated Papers

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

Chia PH et al.

Elife, 2018

Whole Exome Sequencing Uncovers Germline Variants of Cancer-Related Genes in Sporadic Pheochromocytoma.

Urbini M et al.

International Journal of Genomics, 2018

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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."