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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:STAMBP

Variant:p.N315K

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STAMBP

NM_213622.4:p.N315K

hg38:chr2:73850453 C>A

Associated Papers

Novel STAMBP mutations in a Chinese girl with rare symptoms of microcephaly-capillary malformation syndrome and Mowat-Wilson syndrome.

Wang H et al.

Heliyon, 2023

38058451 (PubMed )

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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."