Varaico: Literature-Extracted Genetic Variants

Gene:GDF5
Variant:p.L53fs
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GDF5

NM_000557.5:p.L53fs

Associated Papers

Mutational analysis of consanguineous families and their targeted therapy against dwarfism.

Khan F et al.

Journal of Biomolecular Structure & Dynamics, 2025

GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations.

Genovesi ML et al.

Bone, 2021

Novel homozygous sequence variants in the GDF5 gene underlie acromesomelic dysplasia type-grebe in consanguineous families.

Umair M et al.

Congenital Anomalies, 2017

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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."