Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0A2
Variant:p.L426F
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ATP6V0A2

NM_012463.4:p.L426F

Associated Papers

Identification of novel mutation in autosomal recessive infantile malignant osteopetrosis.

Siddaiahgari SR et al.

Indian Journal of Pediatrics, 2014

Novel mutations in Indian patients with autosomal recessive infantile malignant osteopetrosis.

Phadke SR et al.

The Indian Journal of Medical Research, 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."