Varaico: Literature-Extracted Genetic Variants

Gene:PELI1
Variant:p.A270V
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PELI1

NM_020651.4:p.A270V

Associated Papers

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.

Marcogliese PC et al.

Cell Reports, 2022

35294868 (PubMed )
Supplement: NIHMS1789669-supplement-4.xlsx › S3

De novo mutations in folate-related genes associated with common developmental disorders.

Luo T et al.

Computational and Structural Biotechnology Journal, 2021

33777337 (PubMed )
Supplement: mmc6.xlsx › Sheet1
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