Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA1
Variant:p.K355_A356Splc
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SERPINA1

NM_000295.5:p.K355_A356Splc

Associated Papers

p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.

van Bokhoven H et al.

American Journal of Human Genetics, 2001

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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."