Varaico: Literature-Extracted Genetic Variants

Gene:PEPD
Variant:p.A259V
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PEPD

NM_000285.4:p.A259V

Associated Papers

MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease.

Rowlands CF et al.

American Journal of Human Genetics, 2022

35065709 (PubMed )
Supplement: mmc1.pdf
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