Varaico: Literature-Extracted Genetic Variants

Gene:PCM1
Variant:p.N1125S
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PCM1

NM_006197.4:p.N1125S

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

What went wrong with variant effect predictor performance for the PCM1 challenge.

Miller M 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 › MultCaCa_OtherCG
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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."