Varaico: Literature-Extracted Genetic Variants

Gene:MKKS
Variant:p.T259fs
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MKKS

NM_170784.3:p.T259fs

Associated Papers

Sequence variants in different genes underlying Bardet-Biedl syndrome in four consanguineous families.

Ali A et al.

Molecular Biology Reports, 2023

Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet-Biedl Syndrome.

Nawaz H et al.

Genes, 2023

Clinical and exome sequencing findings in seven children with Bardet-Biedl syndrome from Turkey.

Gumus E et al.

Annals of Human Genetics, 2021

Genetic Causes of Severe Childhood Obesity: A Remarkably High Prevalence in an Inbred Population of Pakistan.

Saeed S et al.

Diabetes, 2020

Novel sequence variants in the MKKS gene cause Bardet-Biedl syndrome with intra- and inter-familial variable phenotypes.

Ullah A et al.

Congenital Anomalies, 2018

Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.

Riazuddin S et al.

Molecular Psychiatry, 2017

Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.

Ullah A et al.

Molecular Vision, 2017

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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."