Varaico: Literature-Extracted Genetic Variants

Gene:SPTBN1
Variant:p.R904Q
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SPTBN1

NM_003128.3:p.R904Q

Associated Papers

A Case of Infantile Epileptic Spasms Syndrome with the SPTBN1 Mutation and Review of βII-Spectrin Variants.

Jang HN et al.

Genes, 2025

40869952 (PubMed )
Supplement: genes-16-00904-s001.zip › genes-3749915-supplementary.xlsx › Sheet1

Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Zhou X et al.

Nature Genetics, 2022

35982159 (PubMed )
Supplement: 41588_2022_1148_MOESM6_ESM.xlsx › SupplementaryData2_ASD_Rep_DNVs
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