Varaico: Literature-Extracted Genetic Variants

Gene:ASH1L
Variant:p.P1768S
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ASH1L

NM_018489.3:p.P1768S

Associated Papers

Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.

Marianski K et al.

Human Genetics, 2025

41442065 (PubMed )
Supplement: 439_2025_2796_MOESM4_ESM.xlsx › ST2

Clinical Application of a Customized Gene Panel for Identifying Autism Spectrum Disorder-Associated Variants.

Greco V et al.

Medicina (kaunas, Lithuania), 2025

40731902 (PubMed )
Supplement: medicina-61-01273-s001.zip › medicina-3732903-supplementary.xlsx › Foglio1

Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge.

Aspromonte MC et al.

Human Genetics, 2025

40019509 (PubMed )
Supplement: 439_2025_2733_MOESM2_ESM.xlsx › Table_S2

Rare variants in cardiomyopathy genes predispose to cardiac injury in severe COVID-19 patients of African or Hispanic ancestry.

Qu HQ et al.

Journal of Molecular Medicine (berlin, Germany), 2025

39730912 (PubMed )
Supplement: 109_2024_2510_MOESM2_ESM.xlsx › Sheet1

Genetic diagnostic outcomes from a 10-year research programme in autism in Aotearoa New Zealand.

Musgrave SM et al.

Journal of the Royal Society of New Zealand, 2025

40756852 (PubMed )
Supplement: TNZR_A_2394128_SM9470.xlsx › Sheet1

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1312.477
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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."