Varaico: Literature-Extracted Genetic Variants

Gene:MCPH1
Variant:p.D146Splc
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MCPH1

NM_024596.5:p.D146Splc

Associated Papers

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

Luo S et al.

Heliyon, 2024

MCPH1: A Novel Case Report and a Review of the Literature.

Caraffi SG et al.

Genes, 2022

35456440 (PubMed )
Supplement: genes-13-00634-s001.zip › Table_S1-MCPH1_Case_Report_v_Literature.xlsx › Table_S1

The DNA damage response molecule MCPH1 in brain development and beyond.

Liu X et al.

Acta Biochimica Et Biophysica Sinica, 2016

Global Carrier Rates of Rare Inherited Disorders Using Population Exome Sequences.

Fujikura K

Plos One, 2016

27219052 (PubMed )
Supplement: pone.0155552.s003.pdf

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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