Varaico: Literature-Extracted Genetic Variants

Gene:SLC34A1
Variant:p.L159M
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SLC34A1

NM_003052.5:p.L159M

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

Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets.

Ruppe MD et al.

Clinical Endocrinology, 2011

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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."