Varaico: Literature-Extracted Genetic Variants

Gene:TUBGCP6
Variant:p.K1542_L1543Splc
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TUBGCP6

NM_020461.4:p.K1542_L1543Splc

Associated Papers

Whole-exome sequencing for genetic screening in high-risk populations: Insights from consanguineous Palestinian families.

Hodrob T et al.

Journal of Genetic Counseling, 2025

Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.

Jain R et al.

Genetics in Medicine Open, 2025

40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_3

Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review.

Thomas-Wilson A et al.

American Journal of Medical Genetics. Part A, 2023

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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."