Varaico: Literature-Extracted Genetic Variants

Gene:ABCD2
Variant:p.E285D
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ABCD2

NM_005164.4:p.E285D

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
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