Varaico: Literature-Extracted Genetic Variants

Gene:TTN
Variant:p.A63T
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TTN

NM_001267550.2:p.A63T

Associated Papers

Clinical features and genetic analysis of a case series of skeletal ciliopathies in a prenatal setting.

Peng Y et al.

Bmc Medical Genomics, 2023

38062428 (PubMed )
Supplement: 12920_2023_1753_MOESM2_ESM.xlsx › Sheet1

Clinical and Genetic Features of Korean Inherited Arrhythmia Probands.

Jeong JH et al.

Korean Circulation Journal, 2023

37653714 (PubMed )
Supplement: kcj-53-693-s007.xls › kcj-53-693-s007

Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10.

Khan A et al.

Bmc Medical Genetics, 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."