Varaico: Literature-Extracted Genetic Variants

Gene:ATP2C2
Variant:p.V102M
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ATP2C2

NM_014861.4:p.V102M

Associated Papers

A rare missense variant in the ATP2C2 gene is associated with language impairment and related measures.

Martinelli A et al.

Human Molecular Genetics, 2021

Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Chen XS et al.

Scientific Reports, 2017

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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."