Varaico: Literature-Extracted Genetic Variants

Gene:PAX2
Variant:p.I54F
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PAX2

NM_000278.5:p.I54F

Associated Papers

[Genetic analysis of a patient with Papillorenal syndrome due to variant of PAX2 gene].

Zhao X et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2022

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-s4.xls › SwissvarFilteredMix
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