Varaico: Literature-Extracted Genetic Variants

Gene:EPHA6
Variant:p.L113M
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EPHA6

NM_001080448.3:p.L113M

Associated Papers

Exome sequencing in families with severe mental illness identifies novel and rare variants in genes implicated in Mendelian neuropsychiatric syndromes.

Ganesh S et al.

Psychiatry and Clinical Neurosciences, 2019

30367527 (PubMed )
Supplement: PCN-73-11-s002.xlsx › Table_3

Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly.

Hettiaracchchi D et al.

Bmc Medical Genetics, 2018

30041615 (PubMed )
Supplement: 12881_2018_646_MOESM1_ESM.xlsx › 949_variants
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