Varaico: Literature-Extracted Genetic Variants

Gene:PHKA1
Variant:p.L677delFs
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PHKA1

NM_002637.4:p.L677delFs

Associated Papers

PHKA1-associated phosphorylase kinase deficiency: a monogenic disorder of exercise intolerance and myalgia.

Koch RL et al.

Npj Genomic Medicine, 2025

A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.

Carli D et al.

Jama Network Open, 2025

41105405 (PubMed )
Supplement: jamanetwopen-e2538198-s001.xlsx › eTable_3
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