Varaico: Literature-Extracted Genetic Variants

Gene:CEP250
Variant:p.H2129R
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CEP250

NM_007186.6:p.H2129R

Associated Papers

Family-based whole-exome sequencing identifies rare variants potentially related to cutaneous melanoma predisposition in Brazilian melanoma-prone families.

Fidalgo F et al.

Plos One, 2022

35085295 (PubMed )
Supplement: pone.0262419.s002.xlsx › 288_candidate_variants

Family-based exome sequencing and case-control analysis implicate CEP41 as an ASD gene.

Patowary A et al.

Translational Psychiatry, 2019

30664616 (PubMed )
Supplement: 41398_2018_343_MOESM3_ESM.xlsx › All_Variants
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