Varaico: Literature-Extracted Genetic Variants

Gene:GAPDH
Variant:p.Q185*
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GAPDH

NM_002046.7:p.Q185*

Associated Papers

A Multicenter Cohort Study of Immune Dysregulation Disorders Caused by ELF4 Variants in China.

Sun G et al.

Journal of Clinical Immunology, 2023

Genotypic and Phenotypic Analysis in Chinese Cohort With Autosomal Recessive Osteogenesis Imperfecta.

Li S et al.

Frontiers in Genetics, 2020

TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism.

Harley ME et al.

Nature Genetics, 2016

Multiple polymorphisms affect expression and function of the neuropeptide S receptor (NPSR1).

Anedda F et al.

Plos One, 2011

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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."