Varaico: Literature-Extracted Genetic Variants

Gene:DSCAML1
Variant:p.P1509L
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DSCAML1

NM_020693.4:p.P1509L

Associated Papers

Potential involvement of DSCAML1 mutations in neurodevelopmental disorders.

Ogata S et al.

Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2021

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.

Guo H et al.

Nature Communications, 2019

31616000 (PubMed )
Supplement: 41467_2019_12435_MOESM4_ESM.xls › Supp._Data_3
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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."