Varaico: Literature-Extracted Genetic Variants

Gene:LRMDA
Variant:p.A23fs
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LRMDA

NM_032024.5:p.A23fs

Associated Papers

The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.

Michaud V et al.

Nature Communications, 2022

35803923 (PubMed )
Supplement: 41467_2022_31392_MOESM4_ESM.xlsx › Supplementary-Table_1

Prevalence and causes of infantile nystagmus in a large population-based Danish cohort.

Hvid K et al.

Acta Ophthalmologica, 2020

Clinical variability and probable founder effect in oculocutaneous albinism type 7.

Bataille P et al.

Clinical Genetics, 2020

Molecular characterization of a series of 990 index patients with albinism.

Lasseaux E et al.

Pigment Cell & Melanoma Research, 2018

Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism.

Grønskov K et al.

American Journal of Human Genetics, 2013

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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."