Varaico: Literature-Extracted Genetic Variants

Gene:PLXNA1
Variant:p.A729T
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PLXNA1

NM_032242.4:p.A729T

Associated Papers

Rare variant analysis of PLXNA1 in Parkinson's disease in the Chinese population.

Li C et al.

Genes & Diseases, 2023

37397528 (PubMed )
Supplement: mmc1.pdf

De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.

Jia X et al.

Science Advances, 2022

35977029 (PubMed )
Supplement: sciadv.abo7112_data_s1_to_s8.zip › sciadv.abo7112_data_s1_to_s8.xlsx › Table_S7._DNM_in_SG_genes

Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.

Nassir N et al.

Human Genomics, 2021

34802461 (PubMed )
Supplement: 40246_2021_368_MOESM2_ESM.xlsx › DbMS-non_synonymous_ex
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