Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.L16fs
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PMP22

NM_000304.4:p.L16fs

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
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