Varaico: Literature-Extracted Genetic Variants

Gene:SP7
Variant:p.R289W
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SP7

NM_001173467.3:p.R289W

Associated Papers

Population-specific putative causal variants shape quantitative traits.

Koyama S et al.

Nature Genetics, 2024

39363016 (PubMed )
Supplement: 41588_2024_1913_MOESM3_ESM.xlsx › ST8_Missense_PPI___0.1

A whole-genome reference panel of 14,393 individuals for East Asian populations accelerates discovery of rare functional variants.

Choi J et al.

Science Advances, 2023

37556544 (PubMed )
Supplement: sciadv.adg6319_tables_s5_s6_s9_and_s11.zip › Table_S11.xlsx › Table_S11

Characterizing rare and low-frequency height-associated variants in the Japanese population.

Akiyama M et al.

Nature Communications, 2019

31562340 (PubMed )
Supplement: 41467_2019_12276_MOESM9_ESM.xlsx › Supplementary_Data_7

Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.

Chen X et al.

Bmc Medical Genetics, 2019

31146700 (PubMed )
Supplement: 12881_2019_813_MOESM1_ESM.xls › CHD7_ChenXiang_query_Report_Fil
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