Varaico: Literature-Extracted Genetic Variants

Gene:MAMLD1
Variant:p.P344L
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MAMLD1

NM_005491.5:p.P344L

Associated Papers

Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients.

Köker MY et al.

The Journal of Allergy and Clinical Immunology, 2013

Prenatal diagnosis of chronic granulomatous disease in a male fetus.

Yavuz Köker M et al.

Iranian Journal of Allergy, Asthma, and Immunology, 2009

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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."