Varaico: Literature-Extracted Genetic Variants

Gene:PBK
Variant:p.P137S
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PBK

NM_018492.4:p.P137S

Associated Papers

Mutations in the extracellular domain and in the membrane-spanning domains interfere with nicotinic acetylcholine receptor maturation.

Yassin L et al.

Biochemistry, 2002

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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."