Varaico: Literature-Extracted Genetic Variants

Gene:APTX
Variant:p.S270F
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APTX

NM_001195248.2:p.S270F

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

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
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