human mutation

hum mutat ISSN 1098-1004 360 views

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scopus ncbi ulakbim sci

Publications

26

ULAKBİM MEP: 2.173 Ödeme: 10000 Yılı: 2020

Details

Abbreviated Name: hum mutat
ISSN: 1098-1004

Publications/Year

Top Clicked Bibliographies from Search

7

The CYSMA web server: an example of integrative tool for in silico analysis of missense variants identified in Mendelian disorders.

2019 292 clicks

1

De Novo GRIN Variants in NMDA Receptor M2 Channel Pore-Forming Loop Are Associated with Neurological Diseases.

2019 274 clicks

2

Xq22 deletions and correlation with distinct neurological disease traits in females: further evidence for a contiguous gene syndrome.

2019 266 clicks

4

A Substantial Proportion of Apparently Heterozygous TP53 Pathogenic Variants Detected with a Next-Generation Sequencing Hereditary Pan-Cancer Panel Are Acquired Somatically.

2019 255 clicks

6

Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminus.

2019 248 clicks

3

A rare heterozygous TREM2 coding variant identified in familial clustering of dementia affects an intrinsically disordered protein region and function of TREM2.

2019 242 clicks

5

Chinese newborn screening for the incidence of G6PD deficiency and variant of G6PD gene from 2013 to 2017.

2019 239 clicks

8

FANCL gene mutations in premature ovarian insufficiency.

2020 237 clicks

9

A founder variant in the South Asian population leads to a high prevalence of FANCL Fanconi anemia cases in India

2020 232 clicks

16

the politics of reproductive health rights in uruguay: why the presidential veto (*) to the right to abortion is illegitimate (**)

2011 198 clicks