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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PHEX

Variant:p.G649_E652del0

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PHEX

NM_000444.6:p.G649_E652del0

hg38:chrX:22226487 AGGCCTGCGG>A

Associated Papers

Whole exome sequencing identifies two novel variants in PHEX and DMP1 in Malaysian children with hypophosphatemic rickets.

Tavana N et al.

Italian Journal of Pediatrics, 2022

36482408 (PubMed )

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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."