Varaico: Literature-Extracted Genetic Variants

Gene:ADSL
Variant:p.A431T
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ADSL

NM_000026.4:p.A431T

Associated Papers

Sources of discordance among germ-line variant classifications in ClinVar.

Yang S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

28569743 (PubMed )
Supplement: gim201760x7.xlsx › table_all_ExAC_consensus_Oct201

Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene.

Balmer C et al.

Human Mutation, 2014

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