Varaico: Literature-Extracted Genetic Variants

Gene:FLNA
Variant:p.I124N
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FLNA

NM_001110556.2:p.I124N

Associated Papers

Whole-Exome Sequencing Identified Novel CLMP Mutations in a Family With Congenital Short Bowel Syndrome Presenting Differently in Two Probands.

Chuang YH et al.

Frontiers in Genetics, 2020

Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants.

Brunelli L et al.

Molecular Genetics & Genomic Medicine, 2019

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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."