Varaico: Literature-Extracted Genetic Variants

Gene:KLF4
Variant:p.P215S
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KLF4

NM_004235.6:p.P215S

Associated Papers

Generation of a human iPSC line (MPIi006-A) from a patient with Pelizaeus-Merzbacher disease.

Kim KP et al.

Stem Cell Research, 2020

Involvement of ER stress in dysmyelination of Pelizaeus-Merzbacher Disease with PLP1 missense mutations shown by iPSC-derived oligodendrocytes.

Numasawa-Kuroiwa Y et al.

Stem Cell Reports, 2014

24936452 (PubMed )
Supplement: mmc2.pdf
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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."