Associated Papers
Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.
Cirulli ET et al.
Nature Communications, 2020
31992710 (PubMed )
Supplement: 41467_2020_14288_MOESM1_ESM.pdf
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
Oculocutaneous albinism (OCA) in Japanese patients: five novel mutations.
Okamura K et al.
Journal of Dermatological Science, 2014
Molecular analysis of Korean patients with oculocutaneous albinism.
Park SH et al.
Japanese Journal of Ophthalmology, 2012
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