Varaico: Literature-Extracted Genetic Variants

Gene:AHI1
Variant:p.N910_E911insA
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AHI1

NM_001134831.2:p.N910_E911insA

Associated Papers

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 893.339

DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands.

Kroes HY et al.

European Journal of Medical Genetics, 0

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