Varaico: Literature-Extracted Genetic Variants

Gene:MAMDC4
Variant:p.S427L
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MAMDC4

NM_206920.3:p.S427L

Associated Papers

Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum Deformity.

Chelleri C et al.

Human Mutation, 2023

40225171 (PubMed )
Supplement: 3160653.f1.zip › Table_S1.pdf

De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family.

Castilla-Vallmanya L et al.

International Journal of Molecular Sciences, 2021

33557041 (PubMed )
Supplement: ijms-22-01549-s001.zip › Suppl_Files › Suppl_Table1_Patient_1_Variants.xlsx › Sheet1
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