Varaico: Literature-Extracted Genetic Variants

Gene:GHDC
Variant:p.L13del1
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GHDC

NM_032484.5:p.L13del1

Associated Papers

Sodium Channel Gene Variants in Fetuses with Abnormal Sonographic Findings: Expanding the Prenatal Phenotypic Spectrum of Sodium Channelopathies.

Hadjipanteli A et al.

Genes, 2024

38255008 (PubMed )
Supplement: genes-15-00119-s001.zip › All_rare_variants_for_fetus_2__manuscript_supplementary_material_.xlsx › Variant_details

Esophageal Cancer with Early Onset in a Patient with Cri du Chat Syndrome.

Danesino C et al.

Diseases (basel, Switzerland), 2023

Malignant transformation and genetic alterations are uncoupled in early colorectal cancer progression.

Mamlouk S et al.

Bmc Biology, 2020

32895052 (PubMed )
Supplement: 12915_2020_844_MOESM4_ESM.xlsx › AC34_Ca_private

ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma.

Rashid M et al.

Nature Communications, 2019

31101826 (PubMed )
Supplement: 41467_2019_9979_MOESM5_ESM.xlsx › Supp_table_2b
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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."