Varaico: Literature-Extracted Genetic Variants

Gene:ATP7A
Variant:p.V125delFs
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ATP7A

NM_000052.7:p.V125delFs

Associated Papers

Defining the Clinical, Molecular and Ultrastructural Characteristics in Occipital Horn Syndrome: Two New Cases and Review of the Literature.

Beyens A et al.

Genes, 2019

31336972 (PubMed )
Supplement: genes-10-00528-s001.zip › OHS_supplemental_figures_revision › Supplemental_table_S2.xlsx › Blad1
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