Varaico: Literature-Extracted Genetic Variants

Gene:SMARCAL1
Variant:p.A596T
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SMARCAL1

NM_014140.4:p.A596T

Associated Papers

Genetic Manifestations and Phenotype Spectrum in Infants With Feeding Difficulty.

Han M et al.

Molecular Genetics & Genomic Medicine, 2024

Heterogeneous genetic landscape of congenital neutropenia in Korean patients revealed by whole exome sequencing: genetic, phenotypic and histologic correlations.

Jeong D et al.

Scientific Reports, 2022

Identification of the genetic basis of sporadic polydactyly in China by targeted sequencing.

Zu B et al.

Computational and Structural Biotechnology Journal, 2021

34194672 (PubMed )
Supplement: mmc1.xlsx › S3
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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."