Varaico: Literature-Extracted Genetic Variants

Gene:MCPH1
Variant:p.K78Splc
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MCPH1

NM_024596.5:p.K78Splc

Associated Papers

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

Luo S et al.

Heliyon, 2024

A novel mutation in the OAR domain of PITX3 associated with congenital posterior subcapsular cataract.

Fan Q et al.

Bmc Medical Genetics, 2019

30894134 (PubMed )
Supplement: 12881_2019_782_MOESM1_ESM.xlsx › Sheet2
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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."