Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHH1
Variant:p.R1125G
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PLEKHH1

NM_020715.3:p.R1125G

Associated Papers

Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency.

Kanazawa N et al.

Nature Communications, 2021

34819510 (PubMed )
Supplement: 41467_2021_27085_MOESM1_ESM.pdf

Integrative data mining highlights candidate genes for monogenic myopathies.

Abath Neto O et al.

Plos One, 2014

25353622 (PubMed )
Supplement: pone.0110888.s004.xlsx › Table_S4
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