Varaico: Literature-Extracted Genetic Variants

Gene:PCM1
Variant:p.E624K
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PCM1

NM_006197.4:p.E624K

Associated Papers

PCM1 is necessary for focal ciliary integrity and is a candidate for severe schizophrenia.

Monroe TO et al.

Nature Communications, 2020

Performance of computational methods for the evaluation of pericentriolar material 1 missense variants in CAGI-5.

Monzon AM et al.

Human Mutation, 2019

Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Pritchard AL et al.

Plos One, 2018

29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › UK10K_OtherCG

Whole Exome- and mRNA-Sequencing of an AT/RT Case Reveals Few Somatic Mutations and Several Deregulated Signalling Pathways in the Context of SMARCB1 Deficiency.

Sandgren J et al.

Biomed Research International, 2015

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