Varaico: Literature-Extracted Genetic Variants

Gene:GATA1
Variant:p.H71P
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GATA1

NM_002049.4:p.H71P

Associated Papers

Genomic alterations linked to recurrence risk in high-grade serous ovarian cancer revealed by deep targeted sequencing.

Park YH et al.

Scientific Reports, 2025

41413429 (PubMed )
Supplement: 41598_2025_26481_MOESM2_ESM.xlsx › Supplementary_Table_S2

The immune response-related genomic alterations in patients with malignant melanoma.

Li L et al.

Medicine, 2024

38669390 (PubMed )
Supplement: medi-103-e37966-s001.xlsx › Sheet1

Novel Variant in CEP250 Causes Protein Mislocalization and Leads to Nonsyndromic Autosomal Recessive Type of Progressive Hearing Loss.

Kang M et al.

Cells, 2023

37759551 (PubMed )
Supplement: cells-12-02328-s001.zip › cells-2551147-supplementary.pdf

X-linked dominant protoporphyria in a Chinese pedigree reveals a four-based deletion of ALAS2.

Wang T et al.

Annals of Translational Medicine, 2020

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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."