Varaico: Literature-Extracted Genetic Variants

Gene:C2
Variant:p.M1L
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C2

NM_000063.6:p.M1L

Associated Papers

Genetic diagnosis in Hemophilia A from southern China: five novel mutations and one preimplantation genetic analysis.

Chen J et al.

International Journal of Laboratory Hematology, 2017

Mutational Analysis on Membrane Associated Transporter Protein (MATP) and Their Structural Consequences in Oculocutaeous Albinism Type 4 (OCA4)-A Molecular Dynamics Approach.

Kamaraj B et al.

Journal of Cellular Biochemistry, 2016

A novel recessive 15-hydroxyprostaglandin dehydrogenase mutation in a family with primary hypertrophic osteoarthropathy.

Erken E et al.

Modern Rheumatology, 2015

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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."