Varaico: Literature-Extracted Genetic Variants

Gene:SALL2
Variant:p.P168L
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SALL2

NM_001364564.1:p.P168L

Associated Papers

RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis.

Wong S et al.

Embo Molecular Medicine, 2023

37066513 (PubMed )
Supplement: EMMM-15-e17078-s005.xlsx › Hets

Molecular characterization of sub-frontal recurrent medulloblastomas reveals potential clinical relevance.

Chen Z et al.

Frontiers in Neurology, 2023

37181548 (PubMed )
Supplement: Data_Sheet_2.xlsx › Germline_mutation-case_1

Whole exome sequencing identifies KIF26B, LIFR and LAMC1 mutations in familial vesicoureteral reflux.

Bartik ZI et al.

Plos One, 2022

Mutation of SALL2 causes recessive ocular coloboma in humans and mice.

Kelberman D et al.

Human Molecular Genetics, 2014

24412933 (PubMed )
Supplement: supp_ddt643_ddt643supp.docx
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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."