Varaico: Literature-Extracted Genetic Variants

Gene:SALL1
Variant:p.R995W
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SALL1

NM_002968.3:p.R995W

Associated Papers

Molecular diagnosis, clinical evaluation and phenotypic spectrum of Townes-Brocks syndrome: insights from a large Chinese hearing loss cohort.

Yan X et al.

Journal of Medical Genetics, 2024

38296632 (PubMed )
Supplement: jmg-2023-109579supp002.pdf

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM2_ESM.xlsx › S2
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