Varaico: Literature-Extracted Genetic Variants

Gene:FAT2
Variant:p.K3586N
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FAT2

NM_001447.3:p.K3586N

Associated Papers

Think of SCA45 in Late-Onset Familial Ataxias: The First Report from the Indian Subcontinent with a Novel Variant.

Ganguly J et al.

Movement Disorders Clinical Practice, 2022

Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance.

Ghorbani F et al.

Frontiers in Genetics, 2022

Does SCA45 Cause Very Late-Onset Pure Cerebellar Ataxia?

Tonholo Silva TY et al.

Neurology. Genetics, 2021

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.

Rafehi H et al.

American Journal of Human Genetics, 2019

Spinocerebellar ataxia: an update.

Sullivan R et al.

Journal of Neurology, 2019

Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia.

Nibbeling EAR et al.

Brain : a Journal of Neurology, 2017

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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."