Varaico: Literature-Extracted Genetic Variants

Gene:CHP1
Variant:p.G74Splc
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CHP1

NM_007236.5:p.G74Splc

Associated Papers

Comparison of F13A1 gene mutations in 73 patients treated with recombinant FXIII-A2.

Ivaškevičius V et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2017

[5alpha-reductase type 2 deficiency: experiences from Campinas (SP) and Salvador (BA)].

Hackel C et al.

Arquivos Brasileiros De Endocrinologia E Metabologia, 2005

X-linked chronic granulomatous disease: first report of mutations in patients of Argentina.

Barese C et al.

Journal of Pediatric Hematology/oncology, 2004

X-Linked Chronic Granulomatous Disease: First Report of Mutations in Patients of Argentina.

Barese C et al.

Journal of Pediatric Hematology/oncology, 2004

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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."