Varaico: Literature-Extracted Genetic Variants

Gene:A2ML1
Variant:p.A1226delFs
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A2ML1

NM_144670.6:p.A1226delFs

Associated Papers

Molecular and clinical profile of patients referred as Noonan or Noonan-like syndrome in Greece: a cohort of 86 patients.

Papadopoulos G et al.

European Journal of Pediatrics, 2022

A2ML1 and otitis media: novel variants, differential expression, and relevant pathways.

Larson ED et al.

Human Mutation, 2019

Comprehensive massive parallel DNA sequencing strategy for the genetic diagnosis of the neuro-cardio-facio-cutaneous syndromes.

Justino A et al.

European Journal of Human Genetics : Ejhg, 2015

Sequence and analysis of a whole genome from Kuwaiti population subgroup of Persian ancestry.

Thareja G et al.

Bmc Genomics, 2015

25765185 (PubMed )
Supplement: 12864_2015_1233_MOESM6_ESM.xlsx › Table_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."