Varaico: Literature-Extracted Genetic Variants

Gene:KMT5B
Variant:p.A74T
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KMT5B

NM_017635.5:p.A74T

Associated Papers

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

Sheppard SE et al.

Science Advances, 2023

Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Zhou X et al.

Nature Genetics, 2022

35982159 (PubMed )
Supplement: 41588_2022_1148_MOESM6_ESM.xlsx › SupplementaryData2_ASD_Rep_DNVs
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