Varaico: Literature-Extracted Genetic Variants

Gene:ZC3H3
Variant:p.S549L
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ZC3H3

NM_015117.3:p.S549L

Associated Papers

Different Contribution of Missense and Loss-of-Function Variants to the Genetic Structure of Familial and Sporadic Meniere Disease.

Parra-Perez AM et al.

Medcomm, 2025

40989574 (PubMed )
Supplement: MCO2-6-e70394-s001.xlsx › TableS13

Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts.

Giannuzzi G et al.

Npj Genomic Medicine, 2022

Exome sequencing in an Italian family with Alzheimer's disease points to a role for seizure-related gene 6 (SEZ6) rare variant R615H.

Paracchini L et al.

Alzheimer's Research & Therapy, 2018

Integrated genomic analyses of de novo pathways underlying atypical meningiomas.

Harmancı AS et al.

Nature Communications, 2017

28195122 (PubMed )
Supplement: ncomms14433-s3.xlsx › Table_S2D
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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."