Varaico: Literature-Extracted Genetic Variants

Gene:TTI2
Variant:p.L180P
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TTI2

NM_001102401.4:p.L180P

Associated Papers

Novel Homozygous TTI2 Variant Causing Autosomal Recessive Syndromic Intellectual Disability and Primary Microcephaly from Pakistan: A Case Report (Exome Report).

Qarnain Z et al.

Case Reports in Genetics, 2022

Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report.

Picher-Martel V et al.

Bmc Neurology, 2020

Confirmation that variants in TTI2 are responsible for autosomal recessive intellectual disability.

Ziegler A et al.

Clinical Genetics, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."