Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.K178insFs
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SLC45A2

NM_016180.5:p.K178insFs

Associated Papers

Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation.

Moreno-Artero E et al.

Genes, 2022

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

Evident hypopigmentation without other ocular deficits in Dutch patients with oculocutaneous albinism type 4.

Kruijt CC et al.

Scientific Reports, 2021

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