Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.G143D
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GJA1

NM_000165.5:p.G143D

Associated Papers

Differential Domain Distribution of gnomAD- and Disease-Linked Connexin Missense Variants.

Bai D et al.

International Journal of Molecular Sciences, 2021

34360596 (PubMed )
Supplement: ijms-22-07832-s001.zip › ijms-1281081_supplemental-tables-June10-2021.pdf

GJA1 Variants Cause Spastic Paraplegia Associated with Cerebral Hypomyelination.

Saint-Val L et al.

Ajnr. American Journal of Neuroradiology, 2019

Exome sequencing of senescence-accelerated mice (SAM) reveals deleterious mutations in degenerative disease-causing genes.

Tanisawa K et al.

Bmc Genomics, 2013

23586671 (PubMed )
Supplement: 1471-2164-14-248-S1.xls › Table_S2

Gap junctions in inherited human disorders of the central nervous system.

Abrams CK et al.

Biochimica Et Biophysica Acta, 2012

Novel mutations in GJA1 cause oculodentodigital syndrome.

Fenwick A et al.

Journal of Dental Research, 2008

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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."