Varaico: Literature-Extracted Genetic Variants

Gene:MCPH1
Variant:p.S293G
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MCPH1

NM_024596.5:p.S293G

Associated Papers

Functional analysis of a novel intronic variant of MCPH1 with autosomal recessive primary microcephaly.

Luo S et al.

Heliyon, 2024

The genetic cause of intellectual deficiency and/or congenital malformations in two parental reciprocal translocation carriers and implications for assisted reproduction.

Cheng D et al.

Journal of Assisted Reproduction and Genetics, 2021

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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."