Varaico: Literature-Extracted Genetic Variants

Gene:EHD1
Variant:p.V472delFs
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EHD1

NM_006795.4:p.V472delFs

Associated Papers

Heterozygosity for neuronal ceroid lipofuscinosis predisposes to bipolar disorder.

Privitera F et al.

Revista Brasileira De Psiquiatria (sao Paulo, Brazil : 1999), 2023

35881528 (PubMed )
Supplement: 1516-4446-rbp-1516444620222650-suppl1.pdf

Systematic analysis of exonic germline and postzygotic de novo mutations in bipolar disorder.

Nishioka M et al.

Nature Communications, 2021

34145229 (PubMed )
Supplement: 41467_2021_23453_MOESM4_ESM.xlsx › Supplementary_Data_1

Exome sequencing for bipolar disorder points to roles of de novo loss-of-function and protein-altering mutations.

Kataoka M et al.

Molecular Psychiatry, 2016

27217147 (PubMed )
Supplement: mp201669x1.docx
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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."