Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.Q1596fs
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APC

NM_000038.6:p.Q1596fs

Associated Papers

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Schmidt A et al.

Nature Genetics, 2024

39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S1

Targeted Sequencing Revealed Distinct Mutational Profiles of Ocular and Extraocular Sebaceous Carcinomas.

Na HY et al.

Cancers, 2021

34638295 (PubMed )
Supplement: cancers-13-04810-s001.zip › cancers-1366838-supplementary.xlsx › Table_S4.
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