Varaico: Literature-Extracted Genetic Variants

Gene:PLXNB1
Variant:p.P435S
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PLXNB1

NM_001130082.3:p.P435S

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

A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb-girdle muscular dystrophy-1 in three Pakistani pedigrees.

Khan K et al.

American Journal of Medical Genetics. Part A, 2022

34697879 (PubMed )
Supplement: supplement_1.docx

Molecular Guided Therapy Provides Sustained Clinical Response in Refractory Choroid Plexus Carcinoma.

Cornelius A et al.

Frontiers in Pharmacology, 2017

28993730 (PubMed )
Supplement: Table3.xlsx › Germline

Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population.

Ostrowski J et al.

Scientific Reports, 2016

28008999 (PubMed )
Supplement: srep39831-s2.xls › _Table_S6
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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."