Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.K317M
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MECP2

NM_001110792.2:p.K317M

Associated Papers

Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report.

Picher-Martel V et al.

Bmc Neurology, 2020

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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."