Varaico: Literature-Extracted Genetic Variants

Gene:ZNF775
Variant:p.L381P
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ZNF775

NM_173680.4:p.L381P

Associated Papers

A novel missense variant in SLC18A2 causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets.

Padmakumar M et al.

Jimd Reports, 2019

31240161 (PubMed )
Supplement: JMD2-47-9-s001.docx
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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."