Varaico: Literature-Extracted Genetic Variants

Gene:GAMT
Variant:p.V165V
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GAMT

NM_000156.6:p.V165V

Associated Papers

Rare disease variant curation from literature: assessing gaps with creatine transport deficiency in focus.

Lyons EL et al.

Bmc Genomics, 2023

37587458 (PubMed )
Supplement: 12864_2023_9561_MOESM1_ESM.xlsx › CuratedVariants
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