Varaico: Literature-Extracted Genetic Variants

Gene:GJC2
Variant:p.Y68C
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GJC2

NM_020435.4:p.Y68C

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG44

Impact of parental relatedness on reproductive outcomes among the Old Order Amish of Lancaster County.

Lynch MT et al.

American Journal of Medical Genetics. Part A, 2022

Genome sequencing in persistently unsolved white matter disorders.

Helman G et al.

Annals of Clinical and Translational Neurology, 2020

Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.

Crowgey EL et al.

The Journal of Molecular Diagnostics : Jmd, 2019

31028937 (PubMed )
Supplement: mmc1.xlsx › SuppTable1_VariantsPanel
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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."