Varaico: Literature-Extracted Genetic Variants

Gene:LMAN2L
Variant:p.R216C
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LMAN2L

NM_030805.4:p.R216C

Associated Papers

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.

Jin SC et al.

Nature Genetics, 2020

32989326 (PubMed )
Supplement: 41588_2020_695_MOESM3_ESM.xlsx › Data_set_1

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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