Varaico: Literature-Extracted Genetic Variants

Gene:PLD4
Variant:p.R201Q
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PLD4

NM_138790.5:p.R201Q

Associated Papers

Loss-of-function mutations in PLD4: a new genomics-guided roadmap for type I interferon-centric lupus.

Yao YL et al.

Science China. Life Sciences, 2026

Loss-of-function mutations in PLD4 lead to systemic lupus erythematosus.

Wang Q et al.

Nature, 2025

A Gly684Ala substitution in the androgen receptor is the cause for azoospermia in a Chinese family with mild androgen insensitivity syndrome and normal hormone levels.

Yuan Y et al.

Frontiers in Genetics, 2022

36159980 (PubMed )
Supplement: Table1.XLSX › SNP
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