Varaico: Literature-Extracted Genetic Variants

Gene:CP
Variant:p.S622Splc
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CP

NM_000096.4:p.S622Splc

Associated Papers

Aceruloplasminemia: a multimodal imaging study in an Italian family with a novel mutation.

Salsone M et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022

Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis.

Vila Cuenca M et al.

International Journal of Molecular Sciences, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."