Varaico: Literature-Extracted Genetic Variants

Gene:PCK2
Variant:p.Q153fs
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PCK2

NM_004563.4:p.Q153fs

Associated Papers

Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease.

Ramadesikan S et al.

Cold Spring Harbor Molecular Case Studies, 2022

35091508 (PubMed )
Supplement: supp_mcs.a006165_Supplemental_Material.pdf

Integrative analysis reveals clinically relevant molecular fingerprints in pancreatic cancer.

Song L et al.

Molecular Therapy. Nucleic Acids, 2021

34513290 (PubMed )
Supplement: mmc3.xlsx › Table_S3
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