Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.K750del1
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ATM

NM_000051.4:p.K750del1

Associated Papers

The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued.

Schröder S et al.

Orphanet Journal of Rare Diseases, 2023

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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."