Varaico: Literature-Extracted Genetic Variants

Gene:MCPH1
Variant:p.S266L
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MCPH1

NM_024596.5:p.S266L

Associated Papers

Novel compound heterozygous mutations in WDR62 gene leading to developmental delay and Primary Microcephaly in Saudi Family.

Naseer MI et al.

Pakistan Journal of Medical Sciences, 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."