Varaico: Literature-Extracted Genetic Variants

Gene:CP
Variant:p.K887_D888Splc
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CP

NM_000096.4:p.K887_D888Splc

Associated Papers

Apparent recessive inheritance of sideroblastic anemia type 2 due to uniparental isodisomy at the SLC25A38 locus.

Andolfo I et al.

Haematologica, 2020

Blepharospasm in a multiplex African-American pedigree.

Xiao J et al.

Journal of the Neurological Sciences, 2016

Molecular analysis of ceruloplasmin in a South African cohort presenting with oesophageal cancer.

Strickland NJ et al.

International Journal of Cancer, 2012

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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."