Varaico: Literature-Extracted Genetic Variants

Gene:PYGM
Variant:p.H63D
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PYGM

NM_005609.4:p.H63D

Associated Papers

Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.

Palao B et al.

Frontiers in Genetics, 2025

41659036 (PubMed )
Supplement: DataSheet1.pdf

Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.

Wildin RS et al.

Journal of Personalized Medicine, 2022

Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory.

Punj S et al.

American Journal of Human Genetics, 2018

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