Varaico: Literature-Extracted Genetic Variants

Gene:FLNA
Variant:p.E622K
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FLNA

NM_001110556.2:p.E622K

Associated Papers

Clinical application of whole-exome sequencing analysis in childhood epilepsy.

Gavaz M et al.

Journal of Neurogenetics, 2024

39654149 (PubMed )
Supplement: supplement_1.xlsx › Supplementary_materials

PTPN11 and FLNA variants in a boy with ambiguous genitalia, short stature, and non-specific dysmorphic features.

Muranishi Y et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2024

Whole-Exome Sequencing Identified Rare Genetic Variants Associated with Undervirilized Genitalia in Taiwanese Pediatric Patients.

Tsai MC et al.

Biomedicines, 2023

A Transposon Screen Identifies Loss of Primary Cilia as a Mechanism of Resistance to SMO Inhibitors.

Zhao X et al.

Cancer Discovery, 2017

28923910 (PubMed )
Supplement: 21598290cd170281-sup-180587_2_supp_4253409_2vv5jv.xls › untreated
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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."