Varaico: Literature-Extracted Genetic Variants

Gene:FAM136A
Variant:p.D88H
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FAM136A

NM_001329752.2:p.D88H

Associated Papers

Evolutionary history of adenomas to colorectal cancer in FAP families.

Yang C et al.

Frontiers in Genetics, 2024

39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 18R12365.xls › SNVIndel

Potential immunosuppressive clonal hematopoietic mutations in tumor infiltrating immune cells in breast invasive carcinoma.

Anandakrishnan R et al.

Scientific Reports, 2023

37573441 (PubMed )
Supplement: 41598_2023_40256_MOESM2_ESM.xlsx › S3._Pathogenic_variants

Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.

Zhu YM et al.

Frontiers in Cell and Developmental Biology, 2021

34692690 (PubMed )
Supplement: Table_2.xlsx › Supplementary_Table_7

Identification of a novel germline frameshift mutation p.D300fs of PMS1 in a patient with hepatocellular carcinoma: A case report and literature review.

Li X et al.

Medicine, 2020

32000458 (PubMed )
Supplement: medi-99-e19076-s002.xlsx › Supp_Table2._somatic_SNVs

Mutational heterogeneity in non-serous ovarian cancers.

Teer JK et al.

Scientific Reports, 2017

28852190 (PubMed )
Supplement: 41598_2017_10432_MOESM2_ESM.xlsx › Supp_Table_11
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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."