Varaico: Literature-Extracted Genetic Variants

Gene:GPM6B
Variant:p.S115G
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GPM6B

NM_001001995.3:p.S115G

Associated Papers

Intermittent granulocyte maturation arrest, hypocellular bone marrow, and episodic normal neutrophil count can be associated with SRP54 mutations causing Shwachman-Diamond-like syndrome.

Saettini F et al.

British Journal of Haematology, 2020

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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."