Varaico: Literature-Extracted Genetic Variants

Gene:TAP2
Variant:p.Q129E
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TAP2

NM_001290043.2:p.Q129E

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
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