Varaico: Literature-Extracted Genetic Variants

Gene:NCAPH
Variant:p.P243L
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NCAPH

NM_015341.5:p.P243L

Associated Papers

Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.

Yuan B et al.

Genome Medicine, 2022

36180924 (PubMed )
Supplement: 13073_2022_1113_MOESM1_ESM.xlsx › Table_S6

Whole-exome sequencing of 81 individuals from 27 multiply affected bipolar disorder families.

Forstner AJ et al.

Translational Psychiatry, 2020

32066727 (PubMed )
Supplement: 41398_2020_732_MOESM5_ESM.xlsx › Supplementary_Table_1

Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis.

Martin CA et al.

Genes & Development, 2016

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