Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.L51P
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CAT

NM_001752.4:p.L51P

Associated Papers

Polymorphisms and haplotype of mitochondrial DNA D-loop region are associated with polycystic ovary syndrome in a Chinese population.

Deng X et al.

Mitochondrion, 2021

Neolithic mitochondrial haplogroup H genomes and the genetic origins of Europeans.

Brotherton P et al.

Nature Communications, 2013

No mitochondrial DNA deletions but more D-loop point mutations in repeated pregnancy loss.

Seyedhassani SM et al.

Journal of Assisted Reproduction and Genetics, 2010

The impact of mtDNA analysis between positions nt8306 and nt9021 for forensic casework.

Poetsch M et al.

Mitochondrion, 2003

Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib).

Schollen E et al.

Human Mutation, 2000

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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."