Varaico: Literature-Extracted Genetic Variants

Gene:SEMA4C
Variant:p.P576R
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SEMA4C

NM_017789.5:p.P576R

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 › Homozygous

Mapping the genetic landscape of early-onset Alzheimer's disease in a cohort of 36 families.

Mol MO et al.

Alzheimer's Research & Therapy, 2022

35650585 (PubMed )
Supplement: 13195_2022_1018_MOESM1_ESM.xlsx › Table_S6_candidate_variants
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