Varaico: Literature-Extracted Genetic Variants

Gene:TYRP1
Variant:p.M1V
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TYRP1

NM_000550.3:p.M1V

Associated Papers

Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants.

Rayner JE et al.

Plos One, 2020

32966289 (PubMed )
Supplement: pone.0238529.s002.docx

Lessons of a day hospital: Comprehensive assessment of patients with albinism in a European setting.

Marti A et al.

Pigment Cell & Melanoma Research, 2018

Polymorphism in ion channel genes of Dirofilaria immitis: Relevant knowledge for future anthelmintic drug design.

Mani T et al.

International Journal for Parasitology. Drugs and Drug Resistance, 2016

Combined Occurrence of Autosomal Dominant Aniridia and Autosomal Recessive Albinism in Several Members of a Family.

Yahalom C et al.

Ophthalmic Genetics, 2015

Prenatal molecular diagnosis of oculocutaneous albinism (OCA) in a large cohort of Israeli families.

Rosenmann A et al.

Prenatal Diagnosis, 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."