Varaico: Literature-Extracted Genetic Variants

Gene:OSTM1
Variant:p.E245A
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OSTM1

NM_014028.4:p.E245A

Associated Papers

Lysosomal pathology and osteopetrosis upon loss of H+-driven lysosomal Cl- accumulation.

Weinert S et al.

Science (new York, N.y.), 2010

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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."