De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay

De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay

Whole-exome sequencing (WES) represents a significant breakthrough in clinical genetics, and identifies a genetic etiology in up to 30% of cases of intellectual disability (ID). Using WES, we identified seven unrelated patients with a similar clinical phenotype of severe intellectual disability or n...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: Yang, Hui, Douglas, Ganka, Monaghan, Kristin G., Retterer, Kyle, Cho, Megan T., Escobar, Luis F., Tucker, Megan E., Stoler, Joan, Rodan, Lance H., Stein, Diane, Marks, Warren, Enns, Gregory M., Platt, Julia, Cox, Rachel, Wheeler, Patricia G., Crain, Carrie, Calhoun, Amy, Tryon, Rebecca, Richard, Gabriele, Vitazka, Patrik, Chung, Wendy K.
स्वरूप: मूलपाठ
भाषा:अंग्रेज़ी
प्रकाशित: Cold Spring Harbor Laboratory Press 2015
विषय:
Research Report
ऑनलाइन पहुंच:https://pmc.ncbi.nlm.nih.gov/articles/PMC4850891/
https://pubmed.ncbi.nlm.nih.gov/27148574
http://dx.doi.org/10.1101/mcs.a000562
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इंटरनेट

https://pmc.ncbi.nlm.nih.gov/articles/PMC4850891/
https://pubmed.ncbi.nlm.nih.gov/27148574
http://dx.doi.org/10.1101/mcs.a000562

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