Varaico: Literature-Extracted Genetic Variants

Gene:SEMA5A
Variant:p.D758Y
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SEMA5A

NM_003966.3:p.D758Y

Associated Papers

Low-level brain somatic mutations in exonic regions are collectively implicated in autism with germline mutations in autism risk genes.

Kim IB et al.

Experimental & Molecular Medicine, 2024

39085355 (PubMed )
Supplement: 12276_2024_1284_MOESM1_ESM.pdf

MAPK and JAK-STAT pathways dysregulation in plasmablastic lymphoma.

Ramis-Zaldivar JE et al.

Haematologica, 2021

33951889 (PubMed )
Supplement: 2020_271957_RAMIS-ZALDIVAR_SUPPL_TableS5.xlsx › 194_Mutations
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