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J

Jeremy R. Sanford

University of California Santa Cruz
H指数:33
被引数:4,531

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A novel splice site variant in DEGS1 leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolved

DEGS1基因的一个新型剪接位点变异导致异常剪接和DEGS1酶活性丧失,该变异为意义不明的变异(VUS)

2026-05-060
OAAI
IGF2BP3 redirects glycolytic flux to promote one-carbon metabolism and RNA methylation

IGF2BP3重定向糖酵解流以促进一碳代谢和RNA甲基化

2025-09-260
OAAI
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods

CAGI,基因组解释的关键评估,建立了计算遗传变异解释方法的进展和前景

2024-02-2210
OAAI
The role of exome sequencing in newborn screening for inborn errors of metabolism
2020-08-10137
OAAI
Improved genome assembly of American alligator genome reveals conserved architecture of estrogen signaling
2017-01-3038
OAAI
IGF2BP3 Modulates the Interaction of Invasion-Associated Transcripts with RISC
2016-05-0165
OAAI