Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.L640P
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PHEX

NM_000444.6:p.L640P

Associated Papers

Novel PHEX gene locus-specific database: Comprehensive characterization of vast number of variants associated with X-linked hypophosphatemia (XLH).

Sarafrazi S et al.

Human Mutation, 2022

34806794 (PubMed )
Supplement: HUMU-43-143-s001.xlsx › Table_S1-_870_PHEX_variants

Clinical and molecular characterization of Chilean patients with X-linked hypophosphatemia.

Jiménez M et al.

Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2021

PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets.

Gaucher C et al.

Human Genetics, 2009

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