Varaico: Literature-Extracted Genetic Variants

Gene:PPARG
Variant:p.K130_G131Splc
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PPARG

NM_138711.6:p.K130_G131Splc

Associated Papers

Independent COL5A1 Variants in Cats with Ehlers-Danlos Syndrome.

Kiener S et al.

Genes, 2022

35627182 (PubMed )
Supplement: genes-13-00797-s001.zip › Table_S4_Private_Variants.xlsx › priv.het.prot.chang.var._case_2

Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey.

Akinci B et al.

The Journal of Clinical Endocrinology and Metabolism, 2016

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