Varaico: Literature-Extracted Genetic Variants

Gene:NCF1
Variant:p.H51_K52Splc
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NCF1

NM_000265.7:p.H51_K52Splc

Associated Papers

Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.

Gal M et al.

Bmc Medical Genomics, 2016

27175728 (PubMed )
Supplement: 12920_2016_184_MOESM1_ESM.xls › S1

Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).

Roos D et al.

Blood Cells, Molecules & Diseases, 2010

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."