Varaico: Literature-Extracted Genetic Variants

Gene:MCPH1
Variant:p.R393delFs
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MCPH1

NM_024596.5:p.R393delFs

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

Genetic heterogeneity in Pakistani microcephaly families.

Sajid Hussain M et al.

Clinical Genetics, 2013

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