Varaico: Literature-Extracted Genetic Variants

Gene:PHF12
Variant:p.N737S
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PHF12

NM_001033561.2:p.N737S

Associated Papers

The landscape of rare genetic variants in familial Waldenström macroglobulinemia.

Pemov A et al.

Blood Neoplasia, 2024

39036705 (PubMed )
Supplement: BNEO_NEO-2023-000111-mmc8.xlsx › Supplementary_Table_7C

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-s002.xlsx › All_variants_in_candidate_genes

Family-based exome sequencing identifies rare coding variants in age-related macular degeneration.

Ratnapriya R et al.

Human Molecular Genetics, 2020

Exome array analysis identifies CAV1/CAV2 as a susceptibility locus for intraocular pressure.

Chen F et al.

Investigative Ophthalmology & Visual Science, 2014

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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."