Varaico: Literature-Extracted Genetic Variants

Gene:C1QTNF5
Variant:p.D235N
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C1QTNF5

NM_001278431.2:p.D235N

Associated Papers

Pediatric T-ALL type-1 and type-2 relapses develop along distinct pathways of clonal evolution.

Richter-Pechańska P et al.

Leukemia, 2022

35585141 (PubMed )
Supplement: 41375_2022_1587_MOESM1_ESM.xlsx › Suppl.Tab.1

A Heterozygous Novel Mutation in TFAP2A Gene Causes Atypical Branchio-Oculo-Facial Syndrome With Isolated Coloboma of Choroid: A Case Report.

Min J et al.

Frontiers in Pediatrics, 2020

Branchio-oculo-facial syndrome in a newborn caused by a novel TFAP2A mutation.

Günes N et al.

Genetic Counseling (geneva, Switzerland), 2014

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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."