Varaico: Literature-Extracted Genetic Variants

Gene:CHCHD7
Variant:p.R43R
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CHCHD7

NM_001011671.3:p.R43R

Associated Papers

Human papillomavirus integration perspective in small cell cervical carcinoma.

Wang X et al.

Nature Communications, 2022

36216793 (PubMed )
Supplement: 41467_2022_33359_MOESM22_ESM.xlsx › Supplementary_Data_19

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.

Perenthaler E et al.

Acta Neuropathologica, 2020

31820119 (PubMed )
Supplement: 401_2019_2109_MOESM10_ESM.xls › 247_Genes_LOF
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