Varaico: Literature-Extracted Genetic Variants

Gene:CHST15
Variant:p.L456delFs
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CHST15

NM_001270764.2:p.L456delFs

Associated Papers

Identification of genotype-biochemical phenotype correlations associated with fructose 1,6-bisphosphatase deficiency.

Sakuma I et al.

Communications Biology, 2023

37507476 (PubMed )
Supplement: 42003_2023_5160_MOESM7_ESM.xlsx › validated_by_Mutalyzer

Analysis of clinical characteristics and genetic testing in patients with acute fatty liver of pregnancy: a retrospective study.

Shi Y et al.

Bmc Pregnancy and Childbirth, 2021

34496798 (PubMed )
Supplement: 12884_2021_4095_MOESM3_ESM.xlsx › PASS_annova

Whole-Exome Sequencing of Discordant Monozygotic Twin Families for Identification of Candidate Genes for Microtia-Atresia.

Fan X et al.

Frontiers in Genetics, 2020

Sequence and analysis of a whole genome from Kuwaiti population subgroup of Persian ancestry.

Thareja G et al.

Bmc Genomics, 2015

25765185 (PubMed )
Supplement: 12864_2015_1233_MOESM6_ESM.xlsx › Table_S3

Autozygome sequencing expands the horizon of human knockout research and provides novel insights into human phenotypic variation.

Alsalem AB et al.

Plos Genetics, 2013

24367280 (PubMed )
Supplement: pgen.1004030.s004.xlsx › Sheet1
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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."