Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.P174S
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GJB1

NM_000166.6:p.P174S

Associated Papers

Hereditary spastic paraplegia and extensive leukoencephalopathy: a case report of a unique phenotype associated with a GJB1/Cx32 p.Pro174Ser variant.

Nakamura H et al.

Bmc Neurology, 2024

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.

Hu H et al.

Molecular Psychiatry, 2016

25644381 (PubMed )
Supplement: mp2014193x1.pdf
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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."