Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A11
Variant:p.R89C
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SLC22A11

NM_018484.4:p.R89C

Associated Papers

A novel de novo nonsense mutation in SALL4 causing duane radial ray syndrome: a case report and expanding the phenotypic spectrum.

Ajam-Hosseini M et al.

Bmc Medical Genomics, 2023

36829172 (PubMed )
Supplement: 12920_2023_1467_MOESM1_ESM.xls › BY1261.txt.nznd

Recurrent noncoding U1 snRNA mutations drive cryptic splicing in SHH medulloblastoma.

Suzuki H et al.

Nature, 2019

31664194 (PubMed )
Supplement: NIHMS1539056-supplement-2.xlsx › Supplementary_Table_5
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