Varaico: Literature-Extracted Genetic Variants

Gene:HPS4
Variant:p.D523N
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HPS4

NM_022081.6:p.D523N

Associated Papers

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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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."