Varaico: Literature-Extracted Genetic Variants

Gene:MCPH1
Variant:p.H49Q
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MCPH1

NM_024596.5:p.H49Q

Associated Papers

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

Luo S et al.

Heliyon, 2024

Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH).

Naveed M et al.

Genetics Research, 2018

SET nuclear oncogene associates with microcephalin/MCPH1 and regulates chromosome condensation.

Leung JW et al.

The Journal of Biological Chemistry, 2011

A clinical and molecular genetic study of 112 Iranian families with primary microcephaly.

Darvish H et al.

Journal of Medical Genetics, 2010

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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."