Varaico: Literature-Extracted Genetic Variants

Gene:C2
Variant:p.M1T
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C2

NM_000063.6:p.M1T

Associated Papers

Genetic etiological spectrum of sperm morphological abnormalities.

Arora M et al.

Journal of Assisted Reproduction and Genetics, 2024

New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra.

Mah-Som AY et al.

Neurology. Genetics, 2021

Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing.

Yu H et al.

The Journal of Allergy and Clinical Immunology, 2016

Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency.

Neerman-Arbez M et al.

Blood, 1999

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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."