Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.K607insFs
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ATP7B

NM_000053.4:p.K607insFs

Associated Papers

Genetic analysis of ATP7B in 102 south Indian families with Wilson disease.

Singh N et al.

Plos One, 2019

31059521 (PubMed )
Supplement: pone.0215779.s001.pdf

Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis.

Dong Y et al.

Theranostics, 2016

Identification of three novel insertion/deletion mutations in Wilson disease's gene.

Fan Y et al.

Biochemical Genetics, 2004

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