Varaico: Literature-Extracted Genetic Variants

Gene:PHYKPL
Variant:p.G240R
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PHYKPL

NM_153373.4:p.G240R

Associated Papers

A scalable approach to resolving variants of uncertain significance.

Tejura M et al.

Biorxiv : the Preprint Server for Biology, 2026

41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP

Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria.

Veiga-da-Cunha M et al.

Journal of Inherited Metabolic Disease, 2013

Exome sequencing of senescence-accelerated mice (SAM) reveals deleterious mutations in degenerative disease-causing genes.

Tanisawa K et al.

Bmc Genomics, 2013

23586671 (PubMed )
Supplement: 1471-2164-14-248-S1.xls › Table_S8
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