Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.H182Y
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SHH

NM_000193.4:p.H182Y

Associated Papers

Disease-associated mutations in WDR34 lead to diverse impacts on the assembly and function of dynein-2.

Shak C et al.

Journal of Cell Science, 2023

Primary adult sellar SMARCB1/INI1-deficient tumor represents a subtype of atypical teratoid/rhabdoid tumor.

Duan Z et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022

Inhibition of nuclear export restores nuclear localization and residual tumor suppressor function of truncated SMARCB1/INI1 protein in a molecular subset of atypical teratoid/rhabdoid tumors.

Pathak R et al.

Acta Neuropathologica, 2021

34003336 (PubMed )
Supplement: 401_2021_2328_MOESM1_ESM.xlsx › Tabelle1
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