Varaico: Literature-Extracted Genetic Variants

Gene:ADSS1
Variant:p.N316_E317Splc
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ADSS1

NM_152328.5:p.N316_E317Splc

Associated Papers

Global carrier frequency and predicted genetic prevalence of patients with pathogenic sequence variants in autosomal recessive genetic neuromuscular diseases.

Choi WJ et al.

Scientific Reports, 2024

38361118 (PubMed )
Supplement: 41598_2024_54413_MOESM1_ESM.xlsx › Table_S3
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