Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.I21fs
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PHEX

NM_000444.6:p.I21fs

Associated Papers

Validation of a next-generation sequencing (NGS) panel to improve the diagnosis of X-linked hypophosphataemia (XLH) and other genetic disorders of renal phosphate wasting.

Thiele S et al.

European Journal of Endocrinology, 2020

33107440 (PubMed )
Supplement: supplementary_table_4.xlsx › Tabelle1__3_
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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."