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Not Found

Description:

SPINOCEREBELLAR ATAXIA

Affected:

No Data

Gender

No Data

Age:

  • Overview
  • Phenotypic Data
  • Publications
  • External Links

Overview

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Repository No Data
Subcollection Heritable Diseases
License Required No Data
Sample Source No Data
Subject Type No Data
Family Type No Data
Ethnicity No Data
Family Member No Data
Genetic Data No Data

Phenotypic Data

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No data is available

Publications

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Laffita-Mesa JM, Nennesmo I, Paucar M, Svenningsson P, A Novel Duplication in ATXN2 as Modifier for Spinocerebellar Ataxia 3 (SCA3) and C9ORF72-ALS Movement disorders : official journal of the Movement Disorder Society: 2020
PubMed ID: 33058338
 
Lian M, Zhao M, Phang GP, Soong YT, Yoon CS, Lee CG, Law HY, Chong SS, Rapid Molecular Screen of Spinocerebellar Ataxia Types 1, 2, and 3 by Triplet-Primed PCR and Melting Curve Analysis The Journal of molecular diagnostics : JMD23:565-576 2020
PubMed ID: 33618058

External Links

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dbSNP dbSNP ID: 12232
NCBI GTR 183090 SPINOCEREBELLAR ATAXIA 2; SCA2
OMIM 183090 SPINOCEREBELLAR ATAXIA 2; SCA2
Omim Description OLIVOPONTOCEREBELLAR ATROPHY 2
  OLIVOPONTOCEREBELLAR ATROPHY, HOLGUIN TYPE
  SPINOCEREBELLAR ATAXIA 2; SCA2
  SPINOCEREBELLAR ATAXIA, CUBAN TYPE
  SPINOCEREBELLAR ATROPHY II
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