Varaico: Literature-Extracted Genetic Variants

Gene:SMN1
Variant:p.P251L
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SMN1

NM_000344.4:p.P251L

Associated Papers

Generation of induced pluripotent stem cell line, ZJUCHi002-A, from Charcot-Marie-Tooth disease type 2A (CMT2A) patient with a mutation of c.752C>T in MFN2.

Xu J et al.

Stem Cell Research, 2019

Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.

Ferrari G et al.

Brain : a Journal of Neurology, 2005

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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."