Varaico: Literature-Extracted Genetic Variants

Gene:FAM8A1
Variant:p.P244L
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FAM8A1

NM_016255.3:p.P244L

Associated Papers

Genetic variants in patients with multiple arterial aneurysms.

Körfer D et al.

Langenbeck's Archives of Surgery, 2024

39382597 (PubMed )
Supplement: 423_2024_3488_MOESM2_ESM.xlsx › Supplemental_Table_2

In-depth genetic and molecular characterization of diaphanous related formin 2 (DIAPH2) and its role in the inner ear.

Chiereghin C et al.

Plos One, 2023

36689403 (PubMed )
Supplement: pone.0273586.s001.zip › SupplementaryInformation › Table_S2_revised.xlsx › Table_S2

Common and rare variants in patients with early onset drusen maculopathy.

de Breuk A et al.

Clinical Genetics, 2022

36053979 (PubMed )
Supplement: CGE-102-414-s009.xlsx › Blad1

Identification of Genetic Predisposition in Noncirrhotic Portal Hypertension Patients With Multiple Renal Cysts by Integrated Analysis of Whole-Genome and Single-Cell RNA Sequencing.

Wu Y et al.

Frontiers in Genetics, 2021

34868264 (PubMed )
Supplement: Table2.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."