Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.P287L
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PHEX

NM_000444.6:p.P287L

Associated Papers

Genetics of Diffuse Idiopathic Skeletal Hyperostosis and Ossification of the Spinal Ligaments.

Kato H et al.

Current Osteoporosis Reports, 2023

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 121.83
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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."