Varaico: Literature-Extracted Genetic Variants

Gene:ZNF398
Variant:p.M1V
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ZNF398

NM_170686.3:p.M1V

Associated Papers

Impaired iloprost-induced platelet inhibition and phosphoproteome changes in patients with confirmed pseudohypoparathyroidism type Ia, linked to genetic mutations in GNAS.

Swieringa F et al.

Scientific Reports, 2020

Clinical and genetic characteristics of Chinese pediatric patients with chronic granulomatous disease.

Gao LW et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2019

Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study.

Zanetti A et al.

European Journal of Pediatrics, 2019

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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."