Varaico: Literature-Extracted Genetic Variants

Gene:ECE1
Variant:p.L389delFs
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ECE1

NM_001397.3:p.L389delFs

Associated Papers

Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets.

Holm IA et al.

The Journal of Clinical Endocrinology and Metabolism, 2001

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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."