Varaico: Literature-Extracted Genetic Variants

Gene:RNF4
Variant:p.D118N
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RNF4

NM_002938.5:p.D118N

Associated Papers

PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features.

Khalil R et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2018

TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Gomes CC et al.

Nature Communications, 2018

30385747 (PubMed )
Supplement: 41467_2018_6690_MOESM6_ESM.xlsx › Supplementary_Data_3
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