Varaico: Literature-Extracted Genetic Variants

Gene:PPIAL4G
Variant:p.F164L
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PPIAL4G

NM_001123068.3:p.F164L

Associated Papers

Waardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report.

Li Y et al.

Bmc Medical Genomics, 2024

38659011 (PubMed )
Supplement: 12920_2024_1877_MOESM2_ESM.xlsx › H12056928648

Base excision repair deficiency signatures implicate germline and somatic MUTYH aberrations in pancreatic ductal adenocarcinoma and breast cancer oncogenesis.

Thibodeau ML et al.

Cold Spring Harbor Molecular Case Studies, 2019

30833417 (PubMed )
Supplement: supp_mcs.a003681_Supplemental_Table_S3_patient2.xlsx › S3C_-_small_mutations

High-risk follicular lymphomas harbour more somatic mutations including those in the AID-motif.

Tsukamoto T et al.

Scientific Reports, 2017

29070849 (PubMed )
Supplement: 41598_2017_14150_MOESM2_ESM.xlsx › Sheet1
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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."