Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.C536Splc
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ATM

NM_000051.4:p.C536Splc

Associated Papers

Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families.

Bitoun E et al.

The Journal of Investigative Dermatology, 2002

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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."