Varaico: Literature-Extracted Genetic Variants

Gene:HTT
Variant:p.Q36P
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HTT

NM_001388492.1:p.Q36P

Associated Papers

Whole exome sequencing reveals an FCGBP variant associated with spontaneous intraabdominal hemorrhage in severe acute pancreatitis.

Tang QY et al.

Imetaomics, 2025

41675706 (PubMed )
Supplement: IMO2-2-e52-s002.xlsx › 2D

Long-read trio sequencing of individuals with unsolved intellectual disability.

Pauper M et al.

European Journal of Human Genetics : Ejhg, 2021

33257779 (PubMed )
Supplement: 41431_2020_770_MOESM3_ESM.xlsx › Table_S21

Comprehensive, integrated, and phased whole-genome analysis of the primary ENCODE cell line K562.

Zhou B et al.

Genome Research, 2019

30737237 (PubMed )
Supplement: supp_gr.234948.118_Supplemental_Table_S6.xlsx › SNVs

Novel biallelic loss-of-function mutations in CFAP43 cause multiple morphological abnormalities of the sperm flagellum in Pakistani families.

Khan I et al.

Asian Journal of Andrology, 0

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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."