Varaico: Literature-Extracted Genetic Variants

Gene:PHYH
Variant:p.A156D
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PHYH

NM_001323083.2:p.A156D

Associated Papers

PHYH c.678+5G>T Leads to In-Frame Exon Skipping and Is Associated With Attenuated Refsum Disease.

Daich Varela M et al.

Investigative Ophthalmology & Visual Science, 2024

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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."