Varaico: Literature-Extracted Genetic Variants

Gene:SPART
Variant:p.Q76*
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SPART

NM_015087.5:p.Q76*

Associated Papers

Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders.

Yoon JG et al.

Genome Medicine, 2025

40770811 (PubMed )
Supplement: 13073_2025_1513_MOESM2_ESM.xlsx › ST10

Estimating the Prevalence of Autosomal Recessive Neuromuscular Diseases in the Korean Population.

Kim SH et al.

Journal of Korean Medical Science, 2025

40390582 (PubMed )
Supplement: jkms-40-e68-s003.xls › jkms-40-e68-s003
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