Varaico: Literature-Extracted Genetic Variants

Gene:DPP6
Variant:p.R322C
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DPP6

NM_130797.4:p.R322C

Associated Papers

Neuronal Roles of the Multifunctional Protein Dipeptidyl Peptidase-like 6 (DPP6).

Malloy C et al.

International Journal of Molecular Sciences, 2022

High-frequency actionable pathogenic exome variants in an average-risk cohort.

Rego S et al.

Cold Spring Harbor Molecular Case Studies, 2018

30487145 (PubMed )
Supplement: supp_mcs.a003178_Supplemental_File_3.xlsx › Sheet1

Targeted next generation sequencing of a panel of autism-related genes identifies an EHMT1 mutation in a Kleefstra syndrome patient with autism and normal intellectual performance.

Bock I et al.

Gene, 2016

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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."