Varaico: Literature-Extracted Genetic Variants

Gene:BCS1L
Variant:p.T138M
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BCS1L

NM_001079866.2:p.T138M

Associated Papers

Cerebral blood flow and acute episodes of Leigh syndrome in neurometabolic disorders.

Loiselet K et al.

Developmental Medicine and Child Neurology, 2021

Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.

Braun DA et al.

Kidney International, 2016

26489029 (PubMed )
Supplement: NIHMS723233-supplement-01.pdf
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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."