Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.R989_V991delFs
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SETX

NM_015046.7:p.R989_V991delFs

Associated Papers

Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein.

Mariani LL et al.

Scientific Reports, 2017

29127364 (PubMed )
Supplement: 41598_2017_15127_MOESM1_ESM.doc

Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.

Anheim M et al.

Brain : a Journal of Neurology, 2009

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