Varaico: Literature-Extracted Genetic Variants

Gene:MCPH1
Variant:p.R304I
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MCPH1

NM_024596.5:p.R304I

Associated Papers

Characterizations of Gene Alterations in Melanoma Patients from Chinese Population.

Luo Y et al.

Biomed Research International, 2020

32083130 (PubMed )
Supplement: 6096814.f1.zip › 6096814.f1 › mat.6096814.v1.xlsx › Germline_mutation

Absence of microcephalin gene mutations in a large cohort of non-consanguineous patients with autosomal recessive primary microcephaly.

Scala I et al.

American Journal of Medical Genetics. Part A, 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."