Varaico: Literature-Extracted Genetic Variants

Gene:HPS4
Variant:p.H188R
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HPS4

NM_022081.6:p.H188R

Associated Papers

Clinical characteristics, imaging findings, and genetic results of a patient with CEP290-related cone-rod dystrophy.

Vilaplana F et al.

Ophthalmic Genetics, 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."