Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B10
Variant:p.Q220H
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HSD17B10

NM_004493.3:p.Q220H

Associated Papers

Prenatal diagnosis of rare genetic disorders: fourteen years' experience of a tertiary genetic centre from India.

Sheth J et al.

Orphanet Journal of Rare Diseases, 2025

40898337 (PubMed )
Supplement: 13023_2025_4003_MOESM4_ESM.xlsx › Other_rare_groups

Comparative yield of molecular diagnostic algorithms for autism spectrum disorder diagnosis in India: evidence supporting whole exome sequencing as first tier test.

Sheth F et al.

Bmc Neurology, 2023

37543562 (PubMed )
Supplement: 12883_2023_3341_MOESM1_ESM.xlsx › Primer_pairs
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