Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.I2998T
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ATM

NM_000051.4:p.I2998T

Associated Papers

Syndromic Retinitis Pigmentosa: A Narrative Review.

Janáky M et al.

Vision (basel, Switzerland), 2025

Familial spinocerebellar ataxia with cerebellar atrophy, peripheral neuropathy, and elevated level of serum creatine kinase, gamma-globulin, and alpha-fetoprotein.

Watanabe M et al.

Annals of Neurology, 1998

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."