Varaico: Literature-Extracted Genetic Variants

Gene:AP4B1
Variant:p.N178_C179del1
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AP4B1

NM_001253852.3:p.N178_C179del1

Associated Papers

Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4B1-associated hereditary spastic paraplegia (SPG47).

Teinert J et al.

Stem Cell Research, 2019

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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."