Varaico: Literature-Extracted Genetic Variants

Gene:PMPCB
Variant:p.A3V
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PMPCB

NM_004279.3:p.A3V

Associated Papers

Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.

Dembic M et al.

Molecular Genetics and Genomics : Mgg, 2023

36454308 (PubMed )
Supplement: 438_2022_1980_MOESM4_ESM.xlsx › List_of_genes

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

Exome Sequencing Identifies Pathogenic and Modifier Mutations in a Child With Sporadic Dilated Cardiomyopathy.

Long PA et al.

Journal of the American Heart Association, 2015

26656454 (PubMed )
Supplement: JAH3-4-e002443-s001.pdf
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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."