Varaico: Literature-Extracted Genetic Variants

Gene:HECTD1
Variant:p.A1084T
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HECTD1

NM_015382.4:p.A1084T

Associated Papers

Identification and functional analysis of rare HECTD1 missense variants in human neural tube defects.

Oxman E et al.

Human Genetics, 2024

Identification and Functional Analysis of Rare HECTD1 Missense Variants in Human Neural Tube Defects.

Oxman E et al.

Research Square, 2024

Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.

Guo H et al.

Molecular Autism, 2018

30564305 (PubMed )
Supplement: 13229_2018_247_MOESM5_ESM.xlsx › MIS30_
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