Varaico: Literature-Extracted Genetic Variants

Gene:PHLDB3
Variant:p.P522L
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PHLDB3

NM_198850.4:p.P522L

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

Embryonic signature distinguishes pediatric and adult rhabdoid tumors from other SMARCB1-deficient cancers.

Richer W et al.

Oncotarget, 2017

28427232 (PubMed )
Supplement: oncotarget-08-34245-s004.xlsx › Sheet_1

Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.

Pagnamenta AT et al.

Human Molecular Genetics, 2015

25855803 (PubMed )
Supplement: supp_ddv117_ddv117supp_table2.xls › Table_S2
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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."